The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- DELETION (Non Malignant)

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 23509645_2 fetal: 46,XX,r(7)(p22q36).ish r(7)(p22q36)(pVYS230A-,p VYS231A-)dn. arr 7p22.3(54,215-170,3 96)x1, 7q36.1q36.3(149,415,502-159,1 18,537)x1 [hg19] fetal holoprosencephaly, hypotelorism p22.3 p22.3     23509645   pregnancy terminated; ~170 kb deletion Edit
2 24039075 46, XY.arr 7p22.3(36480-523731)x0 [hg19] Raine syndrome, protruding tongue, short stature, hypoplastic distal phalanges, wormian bones, pyriform aperture stenosis p22.3 p22.3     24039075   ~487kb deletion; both parents were heterozygous for the deletion; discussion of FAM20C as candidate gene; sensorineural deafness in the paternal side Edit
3 12058345_AU044 46, XY, del(7)(p22.2p22.2) [not visible] autism p22.2 p22.2 GDB:1317384/ D7S2017   12058345 Family AU044 deletion size 183 kb Edit
4 12058345_AU098 46, XY, del(7)(p22.2p22.2) [not visible] autism p22.2 p22.2 D7S472/ D7S1939   12058345 Family AU098 deletion size 96 kb Edit
5 16909388_6545 del(7)(p22.2p22.1) de novo pre-/postnatal growth retardation, microcephaly, patent ductus arteriosus, perimembranous ventricular septal defect, failure to thrive, severe developmental delay, brachycephaly, epicanthic folds, midface hypoplasia, lateral flare of eyebrows, syndactyly of II-III toes p22.2 p22.1 rs10499339 rs1368052 16909388 6545 3.6 Mb deletion Edit
6 12058345_AU026 46, XX, del(7)(p22.1p22.1) [not visible] autism/ pervasive developmental disorder (PDD) p22.1 p22.1 D7S472/ D7S517   12058345 Family AU026 69-kb deletion containing D7S517 Edit
7 9792856_CP_2 46, XY, t(7;8)(p21;q13) de novo [microdeletion del(7)(p21p22.1)] craniosynostosis, facial asymmetry, low frontal hairline, ptosis, brachdeactyly, learning disabilities p22.1 p21 D7S481/ D7S2514 D7S503/ D7S654 9792856 CP   Edit
8 14513358_W63P 46, XY, del(7)(p15.3p21.3) craniosynostosis, metopic synostosis, facial and hand dysmorphisms, developmental delay p22.1 p21.1 D7S2514 D7S2510 14513358 W63P 797 bp to 14.4 Mb deletion; molecular cytogenetic data is not consistent with karyotype Edit
9 14513358_C2535J 46, XY, del(7)(p15.3p21.3) Saethre-Chotzen syndrome, developmental delay p22.1 p21.1 D7S481 D7S2510 14513358 C2535J 510 kb to 16 Mb deletion; molecular cytogenetic data is not consistent with karyotype Edit
10 NIGMS_GM00633_ 1 46, XY, t(7;10)(p21.2;q11.21) del(7)(p21.2p22.1) congenital malformations, severe retardation p22.1 p21.2     GM00663 lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository; see 1132253_1 & _2 (fibroblast from same proband) Edit
11 1132253_1 46, XY, t(7;10)(p21.2;q11.21) del(7)(p21.2p22.1) congenital malformations; severe retardation p22.1 p21.3 D7S537E/ SHGC-17982 D7S664/ Cda0ld02 1132253, 2431619, 1663489, 7607696 GM00044 (GM44, GM0044) fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository; somatic cell hybrid clones: 0044 RAG 1-15, 0044 RAG 9-40-5: www.uni-marburg.de/h umgen; molecular data unpublished; see NIGMS_GM00633_ 1 & _2 (lymphoblast from same proband); molecular cytogenetic data is not consistent with karyotype Edit
12 21837366_S2 46,XY.arr 3p14.1(63,865,947-63,903,7 59)x1 de novo,7p22.1(6,410,321-6,773,8 92)x1 de novo [hg19] autistic disorder p22.1 p22.1     21837366 S2 ~ 363 kb deletion Edit
13 24214456 46,XX. arr 7p22.1(5,990,207-6,026,9 96)x1 de novo Beckwith–Wiedemann syndrome, fibroadenoma of the breast p22.1 p22.1     24214456   ~37 kb deletion; discussion of PMS2 as candidate gene Edit
14 1002161 46, XY, del(7)(p15p22) de novo craniosynostosis, turricephaly, hypotelorism, optic atrophy, low-set ears, stenotic auditory canals, bifid uvula, submucous cleft, transverse creases, severe developmental retardation p22 p15     1002161, 711238, 539602, 7116680, 3874588, 4043965, 1519644, 7521123, 12548740 5 in Table 1 [1002161, 539602], case 21 [7521123], case 13 [12548740]   Edit
15 9792856_HM 46, XY [del(7)(p21.1p21.3), not visible] Saethre-Chotzen syndrome, craniosynostosis, ptosis, syndactyly, learning disabilities p21.3 p21.1 D7S2464/ D7S2557 D7S2551/ D7S2535 9792856 HM   Edit
16 12116251_8 46, XX, del(7)(p15.3p21.3) Saethre-Chotzen syndrome, brachycepahly, plagiocephaly, hearing loss, brachydactyly, facial asymmetry, learning disabilities p21.3 p15.3     12116251 patient 8   Edit
17 12116251_9 46, XX, del(7)(p15.3p21.3) Saethre-Chotzen syndrome, brachycepahly, plagiocephaly, facial asymmetry, learning disabilities, heart defect, malpositioned anus p21.3 p15.3     12116251 patient 9   Edit
18 4043965 46, XY, del(7)(p15.3p21.3) craniosynostosis, brachycephaly, mental retardation, hypertelorism, left blepharoptosis, micrognathia, high arched palate, crytorchidism p21.3 p15.3     4043965, 1519644, 8411039, 7521123, 12548740 case 20 [7521123], case 16 [12548740]   Edit
19 1519644 46, XX, del(7)(p15.3p21.2-21.3) de novo boderline mental retardation, short stature, minor facial anomalies, several skeletal changes p21.3 - 21.2 p15.3     1519644, 7521123, 12548740 RC [1519644], case 9 [7521123], case 8 [12548740]   Edit
20 14513358_S2517D 46, XY [del(7)(p21.1p21.3), not visible] coronal synostosis, cutis aplasia, facial, hand, and foot anomalies, constriction band of left arm, developmental delay p21.3 p21.1 D7S513 D7S2551 14513358 S2517D heterozygous TWIST gene deletion (600 kb to 8.7 Mb) identified by real-time PCR-based gene dosage anaysis; maternal allele deletion confirmed by microsatellite genotyping Edit
21 14513358_F2519T 46, XX [del(7)(p21.1p21.3), not visible] Saethre-Chotzen syndrome, developmental delay p21.3 p21.1 D7S664 D7S2562 14513358 F2519T heterozygous TWIST gene deletion (5.5 Mb to 7.8 Mb) dentified by real-time PCR-based gene dosage anaysis; paternal allele deletion confirmed by microsatellite genotyping Edit
22 18255367_4 46,XY,t(2;7)(p24;p21),i ns(7)(p21.3q21.3q22).ish del(7)(p21.3p21.3)(RP11-455K15-)de novo Saethre-Chotzen syndrome, craniosynostosis, brachydactyly and syndactyly of toes, clinodactyly, hypoplastic left kidney, short and wide neck, bilateral ptosis, epicanthic folds, depressed nasal bridge and low-set ears, small hands and feet with single palmar crease, delayed psychomotor and language development p21.3 p21.3 RP11-455K15   18255367 proband ~690 Kb deletion involving TWIST gene detected by microarray Edit
23 19086034 46,XY,t(5;18)(q33.1;q12.1)de novo [del(7)(p21.3p21.3), dup(14)(q11.2q11.2), dup(17)(q21.31q21.31) CNV's detected by microarray] autism, psychomotor retardation, very minor dysmorphic features p21.3 p21.3     19086034, 15266626 MCN ID: 20040001-023 ~19Kb deletion, www.mcndb.org Edit
24 9792856_SA 46, XY [del(7)(p21.1p21.2), not visible] Saethre-Chotzen syndrome, craniosynostosis, facial asymmetry, cleft palate, deviated nasal septum, ptosis, hypertelorism, brachdactyly, learning disabilities p21.2 p21.1 D7S507/ D7S488 D7S493/ D7S682 9792856 SA   Edit
25 8411039 46, XX, del(7)(p15.3p21.2) de novo ptosis, dacryostenosis, pectus excavatum, short hands, normal to mildly delayed development, no mental retardation, no craniosynostosis p21.2 p15.3     8411039, 12548740 case 21 [12548740]   Edit
26 3487273 46, XY, del(7)(p15.2p21.2) de novo craniosynostosis, psychomotor developmental delay, camprodactyly, syndactyly, hypoplastic external genitalia p21.2 p15.2     3487273, 1519644, 8411039, 7521123, 12548740 case 7 [12548740], case 19 [7521123]   Edit
27 8418642 46, XY, del(7)(p15.1p21.2) de novo multiple congential anomalies, respiratory distress, craniosynostosis, median bony protrusion on the forehead, congenital stridor, seizures, high arched palate p21.2 p15.1     8418642, 7521123, 12548740 case 18 [7521123], case 11 [12548740]   Edit
28 14513358_G1160D 46, XY [del(7)(p21.2p21.2), not visible] Saethre-Chotzen syndrome, developmental delay p21.2 p21.2     14513358 G1160D heterozygous TWIST gene deletion (>797 bp) identified by real-time PCR-based gene dosage anaysis; two markers flanking TWIST were homozygous Edit
29 14513358_S2518C 46, XY [del(7)(p21.1p21.2, not visible] Saethre-Chotzen syndrome, developmental delay p21.2 p21.1 D7S488 D7S654 14513358 S2518C heterozygous TWIST gene deletion (797 bp to 14.4 Mb) identified by rreal-time PCR-based gene dosage anaysis Edit
30 MCN_19920001-044 46, XY, del(7)(p21.2p15) de novo imperforate anus/anal stenosis, abnormal oesophagus/t racheo-oesophageal flatula, multiple vertebral malsegmentation/h emivertebrae, absent/abnormal radius p21.2 p15     MCN ID: 19920001-044 www.mcndb.org Edit
31 9792856_CN 46, XX [del(7)(p21.2p21.2), not visible] Saethre-Chotzen syndrome p21.2 p21.2 rs2857551/ rs2522198 rs4647961/ rs2522207 9792856 CN daughter had same deletion; ~3kb deletion including TWIST gene Edit
32 Stoler_2005 46, X? [del(7)(p21.2p21.2), not visible] Saethre Chotzen syndrome; ptosis, cleft palate, asymmetric face (esp., nose), small ears (no craniosynostosis, no brachy- or syndactyly, no hallux valgus) p21.2 p21.2 TWIST1$ TWIST1$ two cases microdeletion of 18 bp within TWIST1 (NM_000474) (case 1), and his father had dramatic unilateral ptosis, asymmetric nose, and hallux valgus; reported at Annual Clinical Genetics Meeting, 2005 (#125) Edit
33 Shouten_ESHG2006 46, XX, del(7)(p15.3p21.2) mental retardation, growth retardation, dysmorphic features p21.2 p15.3       Schouten et al., ESHG, 2006, P0349 Edit
34 22570644 4?,XY.arr (7p21.2p14.3)x1 de novo craniosynostosis, asymmetrical face, overlapping cranial sutures, hypertrichosis of forehead,low nasal bridge with anteverted nostrils, small palpebral fissures, hypertelorism with epicanthic folds, ptosis of the eyelids, low-set ears, underdeveloped helix, long smooth philtrum, high cleft palate, several limb anomalies, bilateral hypoplastic fifth fingers with clinodactyly, digital webbing, abnormal hand creases, short toes, long broad medially deviated halluces,hypoplastic scrotum, cryptorchidism, hypospadias, open foramen ovale, mild aortic insufficiency, apnea,abnormal sleep EEG, renal insufficiency, severe neurological deficits, died at 2 yrs. p21.2 p14.3     22570644   ~13Mb deletion; discussion of TWIST and HOXA as candidate genes Edit
35 12548740 46, XX, del(7)(p15.1p21.1) de novo bilateral anophthalmia, cryptophthalmos, temporal remnant eye tags, bilateral cleft lip, unilateral cleft palate, proboscis with absent nasal septum, choanal atresia, micrognathia, square stoma, bilateral external auditory canal atresia p21.1 p15.1     12548740     Edit
36 16470734 46, XY, t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), del(10)(q25.3q25.3) de novo facial dysmorphism, clinodactyly of both hands, hypoplasia of the left great toe; pregnancy was terminated p21.1 p21.1     16470734   deletion was of maternal origin Edit
37 17363630_AU072203 del(7)(p21.1p21.1) [CNVs detected by CGH] autism p21.1 p21.1     AU072203 de novo CNVs containing one gene FLJ16237; ~0.15 Mb deletion Edit
38 21302340_22 4?,XX.arr 7p21.1(15,363,547–15,493,8 83)x1,12p13.31(5,415,793–5,5 78,438)x3 ASD p21.1 p21.1     21302340 case 22 ~130 kb deletion encompasses TMEM195; NCBI build 36.1 Edit
39 20473310_SK0443-003 4?,XY.arr (6p12.3)x3,( 7p21.1)x1 autism p21.1 p21.1 HDAC9   20473310 SK0443-003 ~4.8 kb loss Edit
40 18644119_3_2 46,XX,t(4;7)(q13.3;p15.3).ish del(4)(q13.3q13.3)(RP11-373J21-),d el(7)(p15.3p21.1)(RP11-445O1-,R P11-47E14-)mat moderate mental retardation, delayed motor milestones, seizures, ADHD, severe learning difficulties p21.1 p15.3     18644119 Case 3, 2 sisters mother has mild mental retardation Edit
41 Unpublished_13607 46, XY, del(7)(p15p21) craniosynostosis, developmentally delayed p21 p15     13607-PM data unpublished Edit
42 7521123_e 46, X?, del(7)(p15.1p21) de novo craniosynostosis, psychomotor retardation, plagiocephaly, mild campodactyly, renal pelvis malformation, immunodeficiency, choanal stenosis p21 p15.1     7521123, 12548740 e [7521123], case 3 [12548740]   Edit
43 537019_1 46, XY, del(7)(p13p21) de novo psychomotor retardation, brachydactyly (esp. thumbs), low set malformed ears, ptosis, high arched palate, rhizomelic shortening of the upper and lower limbs, other anomalies, hypoplstic genitalia, hypospadias, midfrontal hemangioma p21 p13     537019, 6800299, 7521123, 1519644, 7116680, 9520255, 12548740 case 1 (case 5 in Table 2) [537019], h [7116680], b [7521123], case 3 [12548740]   Edit
44 6800299 46, XX, del(7)(p13p21) de novo psychomotor retardation, abnormal cranial shape, cerebral paresis, gand mal epilepsy, dysplasia of both kidneys, hypertrophy of the clitoris, interatrial septal defect p21 p13     6800299, 7116680, 1519644, 7521123, 9520255, 12548740 case 8 [7521123], case 17 [12548740]   Edit
45 11280946_1 47, XY, +mar(14) pat [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: craniosynostosis, ptosis, low frontal hairline, prominent ear crus, hypertelorism, clinodactyly of the 5th finger, motor developmental delay, learning disabilities p21 p21     11280946 patient 1 FISH and dosage-sensitive Southern blot analysis showed heterozygous deletion of TWIST Edit
46 11280946_2 46, XX [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: craniosynostosis, ptosis, low frontal hairline, learning disabilities p21 p21     11280946 patient 2 FISH and dosage-sensitive Southern blot analysis showed heterozygous deletion of TWIST Edit
47 11280946_3 4?, XX [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: craniosynostosis, ptosis, low frontal hairline, prominent ear crus, hypertelorism, clinodactyly of the 5th finger, developmental delay, learning disabilities p21 p21     11280946 patient 3 dosage-sensitive Southern blot analysis showed heterozygous deletion of TWIST Edit
48 11280946_5 46, XY [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: craniosynostosis, prominent ear crus, hypertelorism, motor developmental delay, learning disabilities p21 p21     11280946 patient 5 dosage-sensitive Southern blot analysis showed partial deletion/rearrangement in/around TWIST; son of patient 11280946_5B, sib of patient 11280946_5A Edit
49 11280946_5A 46, XY [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: prominent ear crus, hypertelorism, tear duct stenosis, partial duplication of the 1st toe p21 p21     11280946 patient 5A dosage-sensitive Southern blot analysis showed partial deletion/rearrangement in/around TWIST; son of patient 11280946_5B, sib of patient 11280946_5 Edit
50 11280946_5B 46, XX [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: prominent ear crus, hypertelorism, brachydactyly with broad thumbs and first toe p21 p21     11280946 patient 5B dosage-sensitive Southern blot analysis showed partial deletion/rearrangement in/around TWIST, but it was not visualized by FISH; mother of patient 11280946_5 and 11280946_5A Edit
51 539602_1 46, XX, rec(7)del(7)(p15p21) ins(7)(q22p15p21) mat psychomotor developmental retardation, microcephaly, low-set ears, wide cranial sutures, ocular hypotelorism, cleft palate, congential heart defect (tetralogy of Fallot, membranous VSD), bilateral hydronephrosis, imperforate anus, enlarged clitoris p21 p15     539602, 6800299, 1519644, 7521123, 12548740 patient 1 (III-3, preposita, RW 040676) [539602], case 10 [7521123], case 14 [12548740] deletion of 7p15-p21; daughter of 539602_II-15; niece of 539602_II-7 Edit
52 15737130 46, XY, del(7)(p15.2p21) Saethre-Chotzen syndrome: craniosynostosis, maxillary hypoplasia, prominent ear crus; hand-foot-genital syndrome: rectoperineal fistula, hypoplastic 5th finger p21 p15.2   RP11-1132K14/ RP11-282C11 15737130   TWIST (RP11-455K15) and HOXA cluster (RP11-1132K14) were deleted; RP11-816F16 (GLI3) was not deleted Edit
53 Shetty_ASHG205_2 46, XX, t(7;8)(p15.2;q11.2) del(7)(p21p21) de novo [refined by FISH] craniosynostosis, dysmorphic features p21 p21       Shetty et al., ASHG 2005, Program #864 Edit
54 15099347 46, XX . ish de(7)(p21p21)(cosIIIA9-) mat Saethre-Chotzen syndrome: craniosynostosis, facial asymmetry, ptosis, prominent crus helices of the ear, brachydactyly p21 p21 RP11-384L2/ cosIIIA9 cosIIIA9/ AC006381 15099347 proband (V-5) deletion of the TWIST gene was detected in 13 family members in five-generation family; mother, two brothers, maternal aunt and maternal grandfather had BPES (blepharophimosis ptosis epicanthus inversus syndrome) -like phenotype Edit
55 10364539 46, XY, del(7)(p14p14) de novo hand-foot-genital syndrome, facial dysmorphism, velopharyngeal insufficiency, persistent patent ductus botalli p15.3 p14.2 rs6977167/ rs7781329 rs2392325/ rs1207908 10364539, 15378350 case 3 [15738350] deletion involved the entire HOXA gene cluster Edit
56 22565194 46,XX,del(7)(p15.3-p15.1).arr 7p15.3p15.1(20,469,062–30,5 82,316)×1 dn IUGR, feeding problems with episodes of cyanosis, failure to thrive, low implantation of ears, hypertelorism, oblique palpebral fissures, retrognathia, palate ogived, toe insertion anomalies, poor facial expression, mild axial hypotonia, mild psychomotor developmental delay, speech problems, patent ductusarteriosus, Legg–Calvé–Perthes disease p15.3 p15.1     22565194     Edit
57 23825006 46,XY.arr arr4q13.2q13.3(67,006,250-71,0 68,535)x1 dn,7p21.1p15.3(17,326,553-22,8 69,338)x1 dn [hg19] autistic behaviours, DD, Saethre–Chotzen syndrome, brachycephalicand acrocephalic head, facial asymmetry, high and narrow forehead, sparse and arched eyebrows, hypertelorism, bilateralblepharophimosis and ptosis, epicanthus inversus, depressedand deviated nasal bridge, anteverted nares, maxillaryhypoplasia, strabismus, low set and posteriorly angulated ear with uplifted lobe and prominent crus helixes, cutaneous syndactyly between 2nd and 3rd fingers p15.3 p21.1     23825006   5.5 Mb deletion; discussion of TWIST1 as candidate gene Edit
58 22631585 4?,XY.arr 7p15.3-p15.1(22,460,185-29,360,9 60)x1 de novo hand-foot-genital syndrome, developmental delay, speech delay, clinodactyly of 5th fingers, curved and broad great toe, short toes, low-set ears, posterior rotated ears, bifrontal narrowing forehead, short stature, neonatal feeding difficulty p15.3 p15.1     22631585   ~6.9 Mb deletion, paternal origin Edit
59 Yenamandra_ASHG2004 46, XX, del(7)(p14.3p15.2) IUGR, mild dysmorphic features, growth and developmental delay, patent ductus arteriosus, bilateral vesicoureteral reflux, partial syndactyly of 2-4 toes p15.2 p14.3       dizygous twin brother was unremarkable; Yenamandra et al., ASHG 2004, Program #956 Edit
60 15108196_36_1 rev ish dim(7p14p15) de novo [inv(7p) was detected by PCR] mental retardation, speech delay, malformed ears, small downslanting palpebral fissures, hypermetropia(+6), broad neck, short extremities, short fingers, clinodactyly of 5th fingers, short toes, pes planus p15.2 p14.2 rs6946110/ rs6965433 rs2541905/ rs2592858 15108196, 15378350 case 36 [15108196], case 2 [15378350] distal breakpoint of inversion disrupted HDAC9; 8-bp deletion in inversion breakpoint at 7p21.1 Edit
61 9520255 46, XY, del(7)(p13p15.1) de novo Greig syndrome, developmental delay, facial dysmorphism, polydactyly & syndactyly of the hands & feet, bilateral esotropia, omphalocele, dysgenesis of the corpus callosum, ventriculomegaly [detected by CT] p15.1 p13     9520255   GLI3 deleted Edit
62 4045964 46, XY, del(7)(p13p15.1) de novo psychomotor retardation, asymmetrical skull, bifid thumbs and right toe, pyloric adenomyosis, hypospadias, simian creases p15.1 p13     4045964, 7521123, 9520255, 12548740 case 4 [7521123], case 12 [12548740]   Edit
63 11005146_1 45, XY, psu dic(22;7)(p13;p22.3) del(7)(p11.2p15.1) de novo craniosynostosis, bilateral cataracts, dysmorphic facies, bilateral syndactyly of the 2nd and 3rd toes, board adducted thumbs, developmental delay, hypostasis p15.1 p11.2     11005146, 12548740 case 22 [12548740]   Edit
64 2431619_441 46, XY, del(7)(p13p15.1) phenotype not given p15.1 p13     2431619 cell line 441 cell line from UCSF Prenatal Detection Program Edit
65 MCN_20020008-210 46, XX, del(7)(p13p15.1) de novo facies significantly abnormal, simian creases, abnormal cardiovascular structure/function, prenatal diagnosis, polydactyly of feet - postaxial/type unspecified p15.1 p13     MCN ID: 20020008-210 www.mcndb.org Edit
66 3237228_2 46, XY, del(7)(p13p15) de novo craniosynostosis, intrauterine growth retardation, mental retardation, psychomotor retardation, plagioturricephaly, osseous defects of the parietal bones, short fingers, proximally Implanted thumbs, microphthalmia, congenital heart defect, hydronephrosis, cryptorchidism p15 p13     3237228, 7521123, 9520255, 12548740 Fall 2 [3237228], d [7521123], case 10 [12548740]   Edit
67 7296937_1 46, XX, del(7)(p13p15) de novo developmental retardation, blepharophimosis, mild hypertelorism, prominent forehead with ridged betopic suture (normal head circumference), small low set ears, bifid right toe p15 p13     7296937, 1519644, 7521123, 9321768, 9520255, 12548740 case 1 [7296937, 12548740], case 6 [7521123]   Edit
68 7296937_2 46, XX, del(7)(p13p15) blepharophimosis, epicanthal folds, widely spread nipples, enlarged clitoris, very large hands and feet, normal growth and head circumference p15 p13     7296937, 1519644, 7521123, 9520255, 12548740 case 2 [7296937, 12548740], case 7 [7521123]   Edit
69 10980571_6 46, XX. rev ish dim(7p15p15) dysmorphic figures, congenital malformation, no details given p15 p15 rs13230965/ rs1858936 rs1181661/ rs11972917 10980571, 11694545, 15108196, 15378350 case 6 [10980571], case 5 [11694545], case 35 [15108196], case 1 [15378350] 6-bp insertion between the breakpoints Edit
70 11807899_5 46, XX, del(7)(p13p15) mat polydactyly of the feet p15 p13     11807899 5 fetus, amniocentesis was done Edit
71 NIGMS_GM10951 46, XX, de(7)(p13p15) phenotype not given p15 p13     GM10951 fibroblast, finite (primary) cell line from CCR: NIGMS Human Genetic Cell Repository Edit
72 MCN_19930002-222 46, XX, del(7)(p11.2p15) macrocephaly, agenesis/hypoplasia of kidneys, simian creases, depressed nasal bridge, low set ears, hypotonia p15 p11.2     MCN ID: 19930002-222 www.mcndb.org Edit
73 MCN_19990007-227 46, XX .rev ish dim(7p15p15) de novo small hand, abnormal ear shape/structure, hypertelorism, frontal bossing, short foot (including brachydactyly), large fontanelle, retroverted ears, other clinodactyly of fingers, low set ears p15 p15     MCN ID: 19990007-227 www.mcndb.org Edit
74 MCN_20010003-227 46, XY .rev ish dim(7p14p15) de novo facies significantly abnormal, mental retardation p15 p14     MCN ID: 20010003-227 www.mcndb.org Edit
75 1981052_BC 46, XY, del(7)(p12.3p14.2) de novo Greig cephalopolysyndactyly syndrome, hypertelorism, severe psychomotor retardation p14.2 p12.3 AC073068/ AC006033 AC095067 1981052, 7521123, 9520255, 11484201, 16829355 BC [1981052], case 2 [7521123], C [11484201, 16829355] first reported by Rosenkranz et al, 1989, Cytogenet Cell Genet 51:1069 Edit
76 14608643_G01 4?, X?, del(7)(p14.1p14.1) Greig cephalopolysyndactyly syndrome (GCPS), mental retardation p14.1 p14.1     14608643 G01 small deletion restricted to the region surrounding GLI3 Edit
77 14608643_G02 4?, X?, del(7)(p14.1p14.1) Greig cephalopolysyndactyly syndrome (GCPS) p14.1 p14.1 rs2141173/ rs10486731 rs12536413/ rs2330413 14608643 G02 deletion size was 176 kb Edit
78 14608643_G03 4?, X?, del(7)(p14.1p14.1) Greig cephalopolysyndactyly syndrome (GCPS) - familiar p14.1 p14.1 rs846317/ rs846316 rs6942797/ rs7802798 14608643 G03 deletion size was 151 kb Edit
79 114608643_G11 4?, X?, del(7)(p14.1p14.1) Greig cephalopolysyndactyly syndrome (GCPS), developmental delay, abnormal corpus callosum p14.1 p14.1 rs4724063/ rs10248172 rs12540814/ rs12674444 14608643 G11 deletion size was 1.01 Mb Edit
80 14608643_G17 4?, X?, del(7)(p13p14.1) Greig cephalopolysyndactyly syndrome (GCPS), mental retardation, developmental delay, abnormal corpus callosum p14.1 p13 rs3823619/ rs3800854 rs4503017/ rs799707 14608643 G17 deletion size was ~6.0 Mb; GLI3, INHBA and 36 additional genes are deleted Edit
81 14608643_G21 4?, X?, del(7)(p12.3p14.1) Greig cephalopolysyndactyly syndrome (GCPS), mental retardation p14.1 p12.3 AC073345 AC010971 14608643 G21 ~10.6-Mb deletion; GLI3, INHBA and 45 additional genes are deleted Edit
82 14608643_G36 4?, X?, del(7)(p14.1p14.1) Greig cephalopolysyndactyly syndrome (GCPS), developmental delay p14.1 p14.1 rs2330208/ rs10236335 rs12536150/ rs6973799 14608643 G36 deletion size was 728 kb Edit
83 17937435_2 46, XY,t(1;5;7)(p32.1;q14.3;p21.3)de novo [cryptic del(1)(p31.1p31.1)del(7)(p14.1p14.1) detected by microarray] severe psychomotor retardation, hypertonia, congenital heart defect, dysmorphic features resembling Greig cephalopolysyndactyly syndrome, polysyndactyly and polydactyly of hands and feet, micrognathia, hypertelorism, wide nasal bridge, bulbous nasal tip, thin upper lip, large anterior fontanelle, horizontal nystagumus, duplication of ureters, spastic tetraparesis, absent speech, low set posteriorly rotated ears, downslanting palpebral fissures, synophrys, short neck, hirsutism, suspected Saethre-Chotzen syndrome p14.1 p14.1 RP11-786M13/R P11-164E6 RP11-2J17/RP11-429N13 17937435 proband ~5.1 Mb deletion, localized on translocation derivative Chr. 7 Edit
84 22183494_1 arr 7p14.1(38,285,500–38,302,7 25)x1 [hg18] Dupuytren’s disease p14.1 p14.1     22183494 1 out of 8 cases ~17,225 kb deletion Edit
85 711238 46, XX, del(7)(p14p14) microcephaly, congenital heart disease, limitation of joint movement, mild mental retardation p14 p14     711238, 7116680, 7521123, 12548740 i [7116680], case 5 [7521123], case 15 [12548740]   Edit
86 1879832 46, XX, del(7)(p13p14) de novo Greig syndrome: developmental delay, preaxial polydactyly of toes, postaxial polydactyly of fingers, syndactyly of fingers & toes, macrocephaly, broad nasal bridge, broad thumbs, anterior anus p14 p13     1879832, 7521123, 9520255 case 3 [7521123], GM10609, MCN ID: 19910010-999, lymphoblast (EBV-transformed) from CCR NIGMS Human Genetic Cell Repository; www.mcndb.org Edit
87 1746608 46, XY, del(7)(p11.2p14) craniosynostosis, seizures, developmental delay, large facial hemangioma, brain anomaly p14 p11.2     1746608, 7521123, 9520255 case 17 [7521123]   Edit
88 Unpublished_GM10925 46, XY, del(7)(p14p12) Greig cephalopolysyndactyly syndrome, broad nasal bridge, extra digits, fused digits, ventricular septal defects, coarctation of aorta p14 p12     GM10925 lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository; data unpublished Edit
89 NIGMS_GM10925 46, XY, del(7)(p12p14) Greig cephalopolysyndactyly syndrome, broad nasal bridge, extra digits, fused digits, ventricular septal defects, coarctation of aorta p14 p12     GM10925 lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
90 15390181 46, XY, del(7)(p11.2p14) [74%]/ 46, XY [26%] [bone marrow] acute lymphoblastic leukemia, Greig cephalopolysyndactyly, mild developmental delay, cryptorchidism of the left testis, strabismus, normal gross motor development p14 p11.2     15390181   ZNFN1A1, GLI genes were involved in deletion Edit
91 11484201_A 46, XX. ish del(7)(p13p13)(12FG1-, 22BE7-, 32JD10-) de novo Greig cephaloploysyndactyly syndrome p13 p13 D7S2454/ SHGC-82690 IGFBP3/ D7S2558 11484201, 16829355 A molecular data unpublished Edit
92 7521123_a 46, X?, del(7)(p13p13) pat [karyotype not given] Greig cephalopolysyndactly syndrome, psychomotor retardation, cardiac defects (VSD, PDA, PA), broad flat nasal bridge, low set malformed ears p13 p13     7521123, 9520255 a deletion from unbalanced product of paternal balanced insertional translocation Edit
93 11484201_BA/BB 46, XY, del(7)(p12.3p13) de novo. ish del(7)(p13)(12FG1-, 22BE7-, 32JD10-) Greig cephaloploysyndactyly syndrome p13 p12.3 RH61826/ WI-9088 D7S2528/ NPC1L1 11484201, 16829355 BA and BB (monozygotic twins) [11484201], B [16829355]   Edit
94 1663489_3BC 46, X?, del(7)(p12.3p13) Greig cephalopolysyndactyly syndrome p13 p12.3     1663489 3BC   Edit
95 Kirkilionis_A1145 46, XY, del(7)(p12.2p13) Greig Cephalopolysyndactyly, delayed cognition and motor development, macrocephaly and severe tracheomalacia p13 p12.2       Kirkilionis et al, abstract, A1145 Edit
96 10449919_EL_2 46, XY, dup(7)(p11.2p13) de novo [14]/ 46, XY, del(7)(p11.2p13) de novo [5]/ 46, XY [17] ultrasound showed choroid plexus cyst and echogenic bowel p13 p11.2     10449919 EL   Edit
97 1663489_4IRB 46, X?, del(7)(p11.2p13) Greig cephalopolysyndactyly syndrome p13 p11.2     1663489 4IRB   Edit
98 1981052_IR_2 46, XY, t(7;20)(p11.2;p11.2)del(7)(p11.2p13) de novo Greig cephalopolysyndactyly syndrome, hypertelorism, severe psychomotor retardation, spasm and epileptic seizures, hirsutism of the face, back and legs p13 p11.2 7Gr395mb/ CDC2L5 D7S2542/ SEC61G$ 1981052, 7521123, 9520255, 11484201, 16829355 IR [1981052], case 1 [7521123], D [11484201, 16829355] first reported by Rosenkranz et al, 1989, Cytogenet Cell Genet 51:1069 Edit
99 14740320_C116 46, XY, del(7)(p13p13) cerebral cavernous malformations p13 p13 D7S478/ D7S2427 rs1968075/ rs4724344 14740320 family C116 proband, mother, four siblings, nephew had CCM on MRI, and all of them studied had same deletion Edit
100 14740320_C127 46, XX, del(7)(p13p13) cerebral cavernous malformations p13 p13 rs12108/ rs4724339 rs4724350/ rs11552377 14740320 family C127   Edit
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