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

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 12210300_2 46, XX, t(7;16)(q21;q24) mat, upd(7) mat IUGR, growth retardation, prominent forehead, low-set ears, triangular face, clinodactyly of 5the finger, no mental retardation [suspected of Silver-Russell syndrome] pter qter     12210300, 11483637   mother had same translocation; maternal heterodisomy 7 Edit
2 10227403_1 47, XX, upd(7) mat, +r(7)(p13q11) pat/ 46, XX, upd(7) mat Russell-Silver syndrome, mental retardation pter qter     10227403, 10789928, 11483637, 16007665 ref. 6 [16007665] partial isodisomy Edit
3 10564876_RSS-44 46, XY, upd(7) mat Russell-Silver syndrome pter qter     10564876 RSS-44 partial heterodisomy Edit
4 10564876_RSS-11 46, XX, upd(7) mat Russell-Silver syndrome pter qter     10564876 RSS-11 isodisomy Edit
5 10789928_5 46, XX, upd(7) mat retarded bone age, hemihypotrophy, triangular face, thin upper lip, clinodactyly, short 5th finger, feeding difficulties pter qter     10789928 patient 5 heterodisomy (meiosis lI) Edit
6 10789928_6 46, XY, upd(7) mat retarded bone age, hemihypotrophy, psychological retardation, triangular face, high forehead, downturned corners of the mouth, pointed chin, clinodactyly, short 5th finger, forehead sweating pter qter     10789928 patient 6 heterodisomy (meiosis lI)
chorionic villi sampling: 47, XY, +7
Edit
7 10789928_7 46, XX, upd(7) mat retarded bone age, psychological retardation, triangular face, high forehead, broad mouth, pointed chin, clinodactyly, feeding difficulties, cerebral hemorrhage pter qter     10789928 patient 7 heterodisomy (meiosis l); chorionic villi sampling: 47, XX, +7 Edit
8 10789928_8 46, XY, upd(7) mat retarded bone age, triangular face, high forehead, broad mouth, downturned corners of the mouth, pointed chin, feeding difficulties pter qter     10789928 patient 8 isodisomy Edit
9 10789928_9 46, XY, upd(7) mat retarded bone age, hemihypotrophy, psychological retardation, triangular face, high forehead, thin upper lip, downturned corners of the mouth, pointed chin, clinodactyly, forehead sweating pter qter     10789928 patient 9 heterodisomy (meiosis lI) Edit
10 11829489_1 46, X?, upd(7) mat Russell-Silver Syndrome pter qter     11829489 Pt. 1 isodisomy Edit
11 11829489_2 46, X?, upd(7) mat Russell-Silver Syndrome pter qter     11829489 Pt. 2 heterodisomy Edit
12 11829489_3 46, X?, upd(7) mat Russell-Silver Syndrome pter qter     11829489 Pt. 3 heterodisomy Edit
13 10756351 46, XY, upd(7) mat Russell-Silver syndrome, cystic fibrosis pter qter     10756351, 10789928   isodisomy Edit
14 1463018 46, XY, upd(7) mat short stature, growth retardation, retarded bone age pter qter     1463018, 10789928 ref. 27 [10789928] heterodisomy (meiosis l); homozygous for COL1A2 mutation Edit
15 2570528 46, XY, upd(7) mat cystic fibrosis, short stature pter qter     2570528, 10789928 ref. 29 [10789928] isodisomy Edit
16 2893543 46, XX, upd(7) mat cystic fibrosis, short stature, retarded bone age, hemihypotrophy, growth hormone deficiency pter qter     2893543, 2035541, 10789928 AB (III-1) [2893543], ref. 26 [10789928] isodisomy; mother (possibly), maternal mother, maternal aunt, and brother were heterozygous for CF mutation Edit
17 8592330 46, XX, upd(7) mat interuterine growth retardation, postnatal growth failure pter qter     8592330, 10789928 ref. 14 [10789928] heterodisomy (meiosis I)?; chorionic villi sampling: 47, XX, +7 Edit
18 9032641_1 46, XX, upd(7) mat Russell-Silver syndrome pter qter     9032641, 10544228, 10789928, 10874633 proband 1 [9032641, 10789928], case 4 (41) [10544228] both heterodisomy and isodisomy Edit
19 9032641_2 46, XX, upd(7) mat Russell-Silver syndrome pter qter     9032641, 10874633, 10789928, 10544228 proband 2 [9032641, 10789928], case 2 (13) [10544228] both heterodisomy and isodisomy Edit
20 9032641_3 46, XX, upd(7) mat Russell-Silver syndrome pter qter     9032641, 10874633, 10789928, 10544228 case in addendum [9032641], case 3 (42) [10789928] both heterodisomy and isodisomy Edit
21 10874633_4 46, X?, upd(7) mat Russell-Silver syndrome pter pter     10874633, 10789928 patient 4 [10874633] both heterodisomy and isodisomy Edit
22 10874633_5 46, X?, upd(7) mat Russell-Silver syndrome pter qter     10874633, 10789928 patient 5 [10874633] both heterodisomy and isodisomy Edit
23 9272165_SR38 46, X?, upd(7) mat IUGR, short stature, relative macrocephaly, triangular face, klinodactyly V, squeaky voice, muscular hypotrophy, (psychomotor retardation) pter qter     9272165, 10789928 SR38 partial isodisomy/partial heterodisomy Edit
24 9272165_SR39 46, X?, upd(7) mat IUGR, short stature, relative macrocephaly, triangular face, klinodactyly V, psychomotor retardation, muscular hypotrophy pter qter     9272165, 10789928 SR39 complete heterodisomy Edit
25 9272165_SR8 46, XX, upd(7) mat IUGR, short stature, asymmetry, relative macrocephaly, irregular teeth, ear anomalies, clinodactyly V, brachydactyly V pter qter     9272165, 10789928 SR8 complete isodisomy Edit
26 9526615_1 46, XY, upd(7) mat Silver-Russell syndrome pter qter     9526615, 10789928 1 isodisomy Edit
27 9526615_2 46, X?, upd(7) mat Silver-Russell syndrome pter qter     9526615, 10789928 2 heterodisomy (meiosis ll) Edit
28 10818216_72 46, XX, upd(7) mat Russell-Silver syndrome pter qter     10818216, 10789928 SR 72 isodisomy Edit
29 11718568 46, XY, upd(7) mat Russell-Silver syndrome pter qter     11718568   placental cells mosaic of isodisomy 7 and trisomy 7 Edit
30 10818216_74 46, XX, upd(7) mat [possible] Russell-Silver syndrome pter qter     10818216, 10789928 SR 74 possible mUPD - paternal DNA was not available Edit
31 10818216_CPM7 46, XX, upd(7) mat/ 47, XX, +7 Russell-Silver syndrome pter qter     10818216, 10789928 CPM 7 isodisomy Edit
32 7633407_1 46, X?, upd(7) mat Russell-Silver syndrome pter qter     7633407, 10789928 1 isodisomy Edit
33 7633407_2 46, X?, upd(7) mat Russell-Silver syndrome pter qter     7633407, 10789928 2 heterodisomy Edit
34 7633407_3 46, X?, upd(7) mat Russell-Silver syndrome pter qter     7633407, 10789928 3 isodisomy Edit
35 7633407_4 46, X?, upd(7) mat Russell-Silver syndrome pter qter     7633407, 10789928 4 isodisomy Edit
36 11370636_I 46, XY, upd(7) mat Russell-Silver syndrome, developmental verbal dyspraxia pter qter     11370636, 11875139, 17033973 I [11370636, 11875139], patient 7 [17033973] isodisomy Edit
37 11370636_II 46, XY, upd(7) mat Russell-Silver syndrome, developmental verbal dyspraxia pter qter     11370636, 11875139, 17033973 II [11370636, 11875139], patient 8 [17033973] both heterodisomy and isodisomy Edit
38 11370636_III 46, XX, upd(7) mat Russell-Silver syndrome, developmental verbal dyspraxia pter qter     11370636, 11875139, 17033973 III [11370636, 11875139], patient 9 [17033973] both heterodisomy and isodisomy Edit
39 11370636_IV 46, XX, upd(7) mat Russell-Silver syndrome, developmental verbal dyspraxia pter qter     11370636, 11875139, 17033973 IV [11370636, 11875139], patient 10 [17033973] both heterodisomy and isodisomy Edit
40 11131354 46, XY, upd(7) mat prenatal and postnatal growth retardation, receptive/expressive language delay, preaxial polydactyly type 1 of the left thumb, disproportionally large head pter qter     11131354   isodisomy Edit
41 11477611_1 46, XY, i(7)(p10), i(7)(q10) postnatal growth retardation, normal psychomotor development, triangular-shaped face, small nose, narrow and high-arched palate, protruding lower lip, pointed chin, feeding difficulties pter p10     11477611, 11483637   paternal isodisomy of 7p, maternal isodisomy of 7q Edit
42 7942853 46, XX, upd(7) pat congenital chloride diarrhea, distended abdomen, watery diarrhea, marked hyperbilirubinemia, mild hearing loss pter qter     7942853, 11352560, LGL4588 [7942853, 11352560], patient 16 [] isodisomy Edit
43 9585585 46, XY, upd(7) pat cystic fibrosis, primary ciliary dyskinesia with dextrocardia and situs inversus totalis, growth retarded pter qter     9585585, 12142464 CC isodisomy; mutations in CFTR (F508del) and DNAh11 Edit
44 11352560_1 46, XY, upd(7) mat Silver-Russell syndrome pter qter     11352560 matUPD7 1 isodisomy Edit
45 11352560_2 46, XY, upd(7) mat Silver-Russell syndrome pter qter     11352560 matUPD7 2 hetero-/isodisomy Edit
46 11352560_3 46, XX, upd(7) mat Silver-Russell syndrome pter qter     11352560 matUPD7 3 hetero-/isodisomy Edit
47 11146466_44 46, XX, upd(7) mat intrauterine growth retardation, cerebral hemorrhage, feeding difficulties, triangular face with broad and high forehead, pointed chin, low-set, prominent and dysplastic ears, clinodactyly of 5th fingers and toes, psychomotor developmental delay -Russell-Silver syndrome pter qter     11146466, 12210294 case 44 heterodisomy Edit
48 Shuman_ASHG1996 46, X?, upd(7) mat Russell-Silver syndrome: IUGR, triangular face, mild micrognathia, clinodactyly of V fingers, syndactyly of II-III toes, normal development pter qter     10789928 ref. 24 [10789928] Shuman et al., 1996, Am J Hum Genet 59 (Suppl.): A284, abstract #1648 Edit
49 10544228_1 46, XY, upd(7) mat Russell-Silver syndrome pter qter     10544228 case 1 (26)   Edit
50 15965898 upd(7) mat cystic fibrosis, Russell-Silver syndrome pter qter     15965898   homozygsity for R1162X mutation; mother was heterozygous for R1162X mutation Edit
51 15915162_1 45, XY, -7 [8]/ 46, XY [10] [amniocentesis]
45, XY, -7 [27]/ 46, XY [7] [term placenta cultures]
46, XY, upd(7) mat [100] [blood]
45, XY, -7 [15]/ 46, XY [85] [rectal biopsy]
46, XY [100] [skin]
Silver-Russell syndrome, Hirschsprung's disease, facial dysmorphism including small triangular face and pointed chin, learning disabilities in expressive speech pter qter     15915162   microsatellite analysis was performed on only blood sample; same patient as 15915162_2 Edit
52 16317300_2 47, XY, upd(7) mat, +mar [9]. ish mar(7)(p11.2q11.21)(AC023141/ Q9BWX6/ D7S619+, D7Z1+, AC017075+)/ 46, XY, upd(7)mat [16] pre- & post-natal growth retardation, triangular face, relative macrocephaly, mild psychomotor retardation, ear anomalies, squeaky voice - some features of Silver-Russell syndrome pter qter     16317300   UPD(7) - heterodisomy Edit
53 15879501_VII 46, XX, upd(7) mat suspected of Silver-Russell syndrome - intrauterine growth retardation, severe postnatal growth retardation, SRS-like features, feeding difficulties pter qter     15879501 VII   Edit
54 Rosell_ESHG2005_1 upd(7) mat Silver-Russell syndrome pter qter     first case isodisomy except qter that was heterodisomic; Rosell et al., ESHG, 2005, #P0405 Edit
55 Rosell_ESHG2005_2 upd(7) mat Silver-Russell syndrome pter qter     second case isodisomy; Rosell et al., ESHG, 2005, #P0405 Edit
56 16835920 46, XY, upd(7)pat [homozygous for mutation G542X] cystic fibrosis, developmental delay, overweight pter qter     16835920   father was heterozygous for mutation G542X Edit
57 Vinkler_ESHG2006 46, XY, upd(7) pat Russell-Silver syndrome, autism, severe developmental delay pter qter       Vinkler et al., ESHG, 2006, P0259 Edit
58 11875139_VI 46, XX, upd(7) mat Russell-Silver syndrome, developmental verbal dispraxia pter qter     11875139, 17033973 VI [11875139], patient 11 [17033973] isodisomy Edit
59 17033973_12 46, XX, upd(7) mat Russell-Silver syndrome, developmental verbal dispraxia pter qter     17033973 patient 12, LGL12989 isodisomy Edit
60 17033973_13 46, XY, upd(7) mat Russell-Silver syndrome, developmental verbal dispraxia, Asperger syndrome pter qter     17033973 patient 13, 27297 isodisomy Edit
61 17033973_17 46, XY, upd(7) mat developmental delay, speech delay, cystic fibrosis pter qter     17033973 patient 17, 18406   Edit
62 18852357_3 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 andoverfolded ears pter qter     18852357   maternal disomy took the form of heterodisomy Edit
63 19364767_1 4?,X?,upd(7)mat Silver-Russell syndrome, intrauterine growth retardation, postnatal growth retardation         19364767   observed in 5 of 188 (2.3%) RSS cases , one case had segmental UPD Edit
64 19364767_2 4?,X?,upd(7)mat intrauterine growth retardation, postnatal growth retardation pter qter     19364767   observed in 2 of 20 patients with IUGR/PNGR Edit
65 20181190 46,XY,upd(7)mat recessivecongenital myotonia, wide-based awkward gait, stiffness in lower limbs, 2 febrile seizures, language delay, dorso-lumbar scoliosis, macrocephaly, small face, broad forehead, deep set eyes, micrognathia, high arched palate, clubfoot pter qter     20181190     Edit
66 21752678 46?,XY,upd(7)mat autistic regression, developmental delay, verbal dyspraxia, Silver Russell syndrome pter qter     21752678     Edit
67 21204802_2 Prenatal:46,X Y; Postnatal skin fibroblasts:46,XY[12]/47,X Y, +7[8],upd(7) mat Russell–Silver syndrome, low-set posteriorly rotated ears, hypopigmentedskin, developmental delay, inferior limbsasymmetry pter qter     21204802   Maternal heterodisomy for long arm and proximal short arm, distal short arm showed maternal isodisomy Edit
68 11477611_2 46, XY, i(7)(p10), i(7)(q10) postnatal growth retardation, normal psychomotor development, triangular-shaped face, small nose, narrow and high-arched palate, protruding lower lip, pointed chin, feeding difficulties q10 qter     11477611, 11483637   paternal isodisomy of 7p, maternal isodisomy of 7q Edit
69 16317299_3 46, XX [amniocentesis]
45, XX, -7 [20] [bone marrow, 18 & 24 m.o.]
47, XX, add(2p), +20 [70%]/ 45, XX, -7 [10%]/ 46, XX [20%] [hepatoblastoma]
46, XX, add(15). ish der(15)t(7;15)(p13-14;q22-23) [33%]/ 46, XX [67%] [skin, 30 m.o.]
intrauterine growth retardation, sparse hair, upslanting palpebral fissures, simple folded ears, pointed chin, triangular face, long fingers, mild clinodactyly of 5th fingers (suspected of Russell-Silver syndrome); postnatal failure to thrive, pancytopenia, myelodysplasia, hepatoblastoma (diagnosed at 21 m.o.), mild joint hypermobility, generally reduced muscle mass q11.23 qter D7S1870/ D7S669   16317299   segmental maternal UPD (isodisomy, only seen in blood sample) detected by microsatellite analysis & microarray analysis Edit
70 16922723 46, XY, upd(7)(q21qter) mat/ 46, XY IUGR, post-natal growth retardation, borderline sweat tests; highly variable sweat chloride concentrations q21 qter D7S2429/ D7S524   16922723   mosaic partial isodisomic maternal UPD; patient and mother were homozygous for F508del Edit
71 19387468_5 46,XX,upd(7)(q22.1qter) refractory anemia q22.1 qter     19387468 Patient no. 5   Edit
72 11112662 46, XX, upd(7)(q31qter) mat Russell-Silver syndrome q31 qter D7S633/ D7S686   11112662, 11483637, 11903344, 11875139, V [11875139], patient 15 [] isodisomy Edit
73 19387468_7 46,XY,upd(7)(q31.33qter) refractory anemia q31.33 qter     19387468 Patient no. 7   Edit
74 15747166_107 46, XX, upd(7) mat heartbeat stopped at 7 week (spontaneous abortion) q32.1 -33 qter D7S2519/ D7S512   15747166 case 107 (fetus) from pter to D7S2519 - biparental; from D7S512 to qter - isodisomy Edit