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

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 12431259 46, XY, r(7)(p22.3q36.3). ish r(7pter+, 7qtel+, AHT-) intrauterine growth retardation, short stature, microcephaly, hyperactive, clinodactyly of V finger, normal mental/motor development, short attention span, hyperactive behaviour p22.3 q36.3     12431259     Edit
2 8922097_1 46, XY, r(7)(p22.3q36.3) [80%]/ 45, XY, -7 [20%] short stature, facial dysmorphism, café-au-lait spots, pigmented naevi p22.3 q36.3     8922097, 10982483 case 12 [10982483]   Edit
3 4145271_1 46, XY, r(7)(p22q36) [57]/ 46, XY, r(7) [double size ring, 2]/ 45, XY, -7 [2]/ 47, XY, r(7), +r(7) [1]/ 46, XY [1] craniosynostosis, microcephaly, severe mental retardation, short stature, unilateral proptosis, ptosis, microcornea, small penis, first-degree hypospaidas, undescended testes p22 q36     537019, 4145271, 1002161, 711238, 539602, 7172483, 6758992, 4043965, 3150243, 2395166, 7521123, 8362903, 2189730, 10982483 case 1 [4145271, 1002161, 539602 (Table 1), 537019 (Table 2), 8362903, 10982483], case 33 [6758992], case 28 [7521123]   Edit
4 4145271_2 46, XY, r(7)(p22q36) [52]/ 46, XY, r(7) [double size ring, 1]/ 45, XY, -7 [4]/ 47, XY, r(7), +r(7) [3]/ 46, XY [2] normal intelligence, short stature, microcephaly, asymmetry of skull, sacral dimple, enlarged space between I and II toes p22 q36     4145271, 1002161, 711238, 539602, 537019, 7172483, 6758992, 3150243, 2395166, 7521123, 8362903, 2189730, 10982483 case 2 [4145271, 1002161, 539602 (Table 1), 537019 (Table 2), 8362903, 10982483], case 34 [6758992], case 15 [7521123]   Edit
5 2189730 46, XY, r(7)(p22q36)/ 46, XY growth failure, microcephaly, achromic spots and multiple pigmented naevi p22 q36     2189730, 8362903, 10982483 case 7 [8362903, 10982483]   Edit
6 1746606 46, XY, r(7)(p22q36) [35]/ 46, XY, partial dup r(7) [3]/ 46, XY, dup r(7) [1]/ 46, XY, der(7)r(7) [1]/ 45, XY, -7 [1] congenital cyanotic heart disease, situs inversus, capillary hemangiomata, respiratory problems, renal problems, low birth weight, growth retardation, microcephaly p22 q36     1746606, 8362903, 10982483 case 9 [8362903, 10982483] de novo Edit
7 8362903 46, XY, r(7)(p22q36) [95%]/ 46, XY [5%] severe mental retardation, growth failure, microcephaly, cleft lip and palate, café-au-lait spots, nevus flammeus, genital abnormalities, traits of holoprosencephaly p22 q36     8362903, 10982483 case 10 [10982483]   Edit
8 8911601_1 46, XY, r(7)(p22q36)del(7)(q36.3q36.3)[90]/ 45, -7 [8]/ 46, XY, dup r(7) [1]/ 47, XY, r(7), +r(7) [1] hypotelorism, proptosis, single nostril, cleft lip/palate, ambiguous genitalia, semilobar holoprosencephaly p22 q36     8911601, 9254845, 10982483 859 [9254845], case 11 [10982483]   Edit
9 3150243 46, XX, r(7)(p22q36) [46]/ 46, XX, dic r(7) [1]/ 46, XX, -7 [3] multiple café-au-lait spots, hypotonic, tonic seizures, developmental delay, mental retardation p22 q36     3150243, 8362903, 10982483 case 6 [8362903, 10982483]   Edit
10 9254845_884 46, XX, r(7)(p22q36) developmental delay, retardation, microcephaly, dysmorphia, no holoprosencephaly p22 q36     9254845 884   Edit
11 15523614_1 45, XY, -7 [3]/ 46, XY, r(7)(p22q36) [44]/ 69, XY?, r(7), r(7) [2]/ 69, XY?, duplicated ring [2] severe IUGR, growth retardation, severe psychomotor and mental retardation, speech delay, microcephaly, seizures, multiple congenital melanocytic nevi, dysmorphic features, adducted thumbs, clinodactyly, limited elbow mobility, unable to walk at age 14 p22 q36     15523614     Edit
12 Barros_1986 46, XY, r(7)(p22q36) growth delay, mental retardation, dysarthric speech, microcephaly, ocular anomalies, skin lesions, bone anomalies, genital anomalies p22 q36     2395166, 8362903, 10982483 case 5 [8362903] Barros et al., 1986, Ciência e Cultura 38 supple:849 Edit
13 Amouri_ESHG2005_1 46, XX, -7, -8 [bone marrow]
46, XX, r(7)(p22q36) [80%]/ 46, XX, R(7) [1]/ 45, XX, -7 [1]/ 46, XX [2] [lymphocytes]
chronic myelomonocytic leukemia, growth & developmental delay, skin lesion p22 q36     5 year-old patient R(7): double ring chr. 7; Amouri et al., ESHG, 2005, #P0306 Edit
14 23509645_1 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 q36.3     23509645   pregnancy terminated Edit
15 12687662_r(7) r(7)(p21q32) microcephaly, agenesis, multiple congenital anomalies p21 q32     12687662 r(7) in Table 5   Edit
16 10227403_2 47, XX, upd(7) mat, +r(7)(p13q11) pat/ 46, XX, upd(7) mat Russell-Silver syndrome, mental retardation p13 q11     10227403, 10789928, 11483637, 16007665 ref. 6 [16007665] partial isodisomy Edit
17 Ebrahim_ASHG2008 47,XY,r(7)(p12q21.2),+ neo(7)(pter->p14->neo->p14->p12::q21.2->qter)[20].ish r(7)(D7Z1+,WCP7+,ELN+,pter-,q ter-),+neo(7)(D7Z1-,WCP7+,E LN- ,pter+,qter+) developmental delay, neocentromere formation p12 q21.2       Ebrahim et al., ASHG 2009, Program #1054/W Edit
18 13680362_13 47, XX, +mar [26] de novo/ 46, XX [14] [peripheral blood]
r(7)/ r(7;7) de novo (2 subclones) [cenM-FISH]
7q+; pcp7q+; cep7+r(7)(::p11.1->q11.21::) [15]/ 7q++; pcp7q++; cep7++ r(7;7)(::p11.1-> q11.21::p11.1-> q11.21::) [4]/ 7q++++; pcp7q++++; cep7++++r(7;7;7;7)(::p11.1-> q11.21::p11.1-> q11.21::p11.1-> q11.21::p11.1-> q11.21::) [1] (3 subclones) [subcenM-FISH]
aorta insufficiency, aorta root ectasia; atrial septal defect, side ventricles enlarged with plexus cyst, dysacusis on both ears p11.2 q11.21     13680362 case 13   Edit
19 18049079_B.D. _2 46, XY, upd(7), +r(7)(p11.2q21) pat Russell-Silver syndrome, intrauterine growth retardation, feeding difficulties, retarded bone age, growth retardation, motor development delay, low set ears/ear anomalies, muscular hypoplasia, triangular face, micrognathia, blue sclerae p11.2 q21.12     18049079 B.D. dizygotic twin Edit
20 18852357_2 mos 47,XY,+r(7)(p11.2q11.21)[22]/4 6,XY,upd(7) mat myoclonus-dystonia syndrome, Silver-Russell syndrome, intrauterine growth retardation, growth retardation, premature puberty, dystonia, myoclonus, small triangular-shaped face, prominent forehead, hypertelorism, smallmouth with thin lips, micrognathia with pointed chin, low posterior-rotated and overfolded ears p11.2 q11.21 RP5-1091E12 RP11-340I6 18852357     Edit
21 16007665 47, XX, +r. ish r(7)(::p11.1-> q11.21::). ish 7p11.1-q11.1(D7Z1×1), 7p11.2(bA10F11×1), 7q11.21(bA3N2×1) [15]/ r(7;7)(::p11.1-> q11.21::p11.1 -> q11.21::). ish 7p11.1-q11.1(D7Z1×2), 7p11.2(bA10F11×2), 7q11.21(bA3N2×2) [4]/ r(7;7;7;7)(::p11.1-> q11.21::p11.1 -> q11.21::q11.21-> p11.1::q11.21-> p11.1::). ish 7p11.1-q11.1(D7Z1×4), 7p11.2(bA10F11×4), 7q11.21(bA3N2×4) [1]/ 46,XX [10] psychomotor development, congenital heart defect, facial dysmorphism (broad nasal bridge, epicanthal folds, telecanthus, retrognathia, high arched palate, dysplastic ears), long hands, fingers, feet and toes, hypotonia p11.1 q11.21     16007665     Edit
22 926417 46, XY, r(7) [140]/ 46, XY, dic r(7) [8]/ 45, XY, -7 [6]/ 47, XY, r(7), +r(7) [1]/ 46, XX, dic r(7)x2 [1]/45, XY, -C [5]/ 46, XY [1] mental retardation, developmental delay, speech delay, café-au-lait spots, clumsy eye movement pter qter     926417, 3150243, 7172483, 2395166, 2189730, 8362903, 10982483 case 3 [8362903, 10982483] mother had some types of structual chromosomal abnormalities: ring formation, reciprocal translocation, pericentric inversion and acentric fragmentaion Edit
23 8428043 46, XX, r(7) skin lesions, numerous melanocytic nevi, short stature, malignant melanoma pter qter     8428043     Edit
24 10594874_2 46, XY [293]/ 47, XY, +7 [56]/ 46, XY, r(7) [60]/ 47, XY, +7, r(7)[2] intrauterine growth retardation, short stature, moderate mental retardation, multiple minor anomalies, pigmentation anomalies pter qter     10594874     Edit
25 7172483 46, XX, r(7) [96]/ 47, XX, r(7), +r(7) [3]/ 46, XX, der(7)r(7) [1] short stature, systemic hypertension, wide-spaced nipples, slightly arched palate, skin lesions associated with cutis marmorata on abdomen and thighs, naevus flammeus on forehead and vertex, multiple pigmented naevi on all parts of the body pter qter     7172483, 3150243, 7172483, 2395166, 2189730, 1415332, 8362903, 10982483 SI [7172483], case 4 [8362903, 10982483]   Edit
26 2395166 46, XY, r(7)(pter->qter) prenatal onset growth deficiency, bone anomalies, pigmentary or vascular skin changes, ocular and genital anomalies, severe mental retardation, dysarthric speech pter qter     2395166, 8362903, 10982483 case 8 [8362903, 10982483]   Edit
27 10982483 46, XX, r(7) [124]/ 46, XX, dic r(7) [3]/ 47, XX, r(7), +r(7) [2]/ 46, XX, der(7)r(7) [10]/ 45, XX, -C [3]/ 46, XX [1] microcephaly, growth and developmental delay, multiple angiomas, partial sacral agenesis pter q36     10982483 case 13 (present case) 7q36 deletion in the ring chromosomes Edit
28 8328459_B 47, XY, +r(7) pat [100%] high and narrow forehead, down-slanting palpebral fissures, low-set ears, micrognathia, normal development but low performance pter qter     8328459, 11241494, 15337469, 16007665 case B [8328459, 15337469], case H [11241494], ref. 3 -5 [16007665]   Edit
29 12599184_4 47, XY, +r(7) de novo developmental delay, therapy resistant seizures, no overt dysmorphic features pter qter     12599184, 15337469, 16007665 case 4 (00-1438) [12599184], case G [15337469], ref. 9 [16007665]   Edit
30 12955771 48-51, XY, +2-5mar de novo/ 46, XY [r(6) in 68%, r(12) in 24%, r(7) in 18%, r(19) in 14% of cells, r(10)] hypotonia, opisthotonos, broad nasal bridge, large lips, retrognathia, proximally implanted thumbs, total situs inversus, agenesis of corpus callosum pter qter     12955771     Edit
31 Berg_ASHG2006_2_2 47, XXY, r(7) [33%]/ 47, XXY [67%] severe language delay pter qter       r(7) contains material from 7q11.23; duplication was indentified by array CGH and confirmed by FISH Edit
32 9545097_+r(7) mos +r(7) autism pter qter     9545097     Edit
33 9545097_r(7) mos +r(7) autism pter qter     9545097     Edit
34 18300171_MM6 46,XX,r(7) [10% ]/46,XX dysmorphic face, upward slanting palpebral fissures, broad nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, café-au-lait spots, microcephaly, growth delay, speech delay, severe intellectual impairment, seizures pter qter     18300171 MM6   Edit
35 11241494_I 46, XY, r(7)(q10q11.2) [35%]/ 46, XY [65%] phenotypically normal q10 q11.2     11241494 case I father of 8328459_B Edit
36 12000362 47, XY, +mar. ish r(7)(D7Z1+) de novo significant development delay, speech delay, good receptive language, mental retardation, facial dysmorphism q10 q11.2?     12000362, 15337469, 15580634, 16007665 case F [15337469], ref. 8 [16007665]   Edit
37 10797441_1 47, XX, +r(7). ish r(7)(wcp+, D7S520+, D7S659/499-, D7S494-) mat [50%]/ 46, XX [50%] developmental delay, mild mental retardation, severe speech delay, dysmorphic facies (flat profile, high nasal bridge, prognathia, simply formed ears, downslanting palpebral fissures, bifid uvula, midline cleft palate), right simian creases, genua valga q10 q11.2 D7S494/ D7S520   10797441, 15337469, 15580634, 16007665 1 [10797441], case C [15337469], ref. 7 [16007665] first child of 10797441_3 Edit
38 10797441_2 47, XY, +r(7). ish r(7)(wcp+, D7S520+, D7S659/499-, D7S494-) mat [50%]/ 46, XX [50%] psychomotor development delay, severe speech delay, dysmorphic features (flat profile, high nasal bridge, prognathia, simply formed ears, downslanting palpebral fissures) q10 q11.2 D7S494/ D7S520   10797441, 15337469, 15580634, 16007665 2 [10797441], case D [15337469], ref. 7 [16007665] third child of 10797441_3 Edit
39 10797441_3 47, XX, +r(7). ish r(7)(wcp+, D7S520+, D7S659/499-, D7S494-) de novo [50%]/ 46, XX [50%] speech difficulties, dysmorphic features q10 q11.2 D7S494/ D7S520   10797441, 15337469, 15580634, 16007665 3 [10797441], case E [15337469], ref. 7 [16007665] mother of 10797441_1 and 10797441_2 Edit
40 15580634 47, XX, +r(?). ish r(7)(q10q11.23)(wcp+, D7Z1+, D7S520+, ELN+, LINK1+, D7S613+, D7S659/499-, D7S494-) de novo [50]/ 46, XX [50] [also confirmed by array CGH] expressive speech development, poor articulation, minor dysmorphic features, recurrent otitis media, and recurrent urinary tract infections q10 q11.23     15580634     Edit