Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation.
نویسندگان
چکیده
A male infant, partially trisomic for a small segment of chromosomes 6 and 22 resulting from a maternal translocation, is described. Comparison of the phenotypic features of the proband with those noted in partial 6p and partial 22 trisomies revealed some common features found in both chromosome anomalies but especially reinforced those features thought to be characteristic of 6p trisomy syndrome.
منابع مشابه
Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature.
Carriers of completely balanced chromosomal translocations have all necessary genetic information. Nevertheless, because of the possibility of maldistribution during gametogenesis, they are at increased risk for infertility, miscarriage, stillbirth or having a child with congenital anomalies including mental retardation. As postnatal clinical reports are infrequent, prediction of clinical cours...
متن کاملDistal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?
Several papers have recently shown that 6–7% of retarded patients with unclassified malformation syndromes and normal routine cytogenetic analysis have cryptic rearrangements involving subtelomeric regions. About half of these patients have familial unbalanced translocations, the other half have de novo deletions, and very few cases have duplications. The existence of subtelomeric imbalances wi...
متن کاملTwo children with partial trisomy for 7p.
A second family in which a balanced translocation between 7p and 22q is segregating is described. The clinical features of 2 children with a resulting partial trisomy for 7p are described and compared with the previously described case.
متن کاملRECONSIDERATION OF THE CAT EYE SYNDROME: RECIPROCAL TRANSLOCATION T(1l,22) LEADING TO PARTIAL TRISOMY OF llq AND 22.
We are reporting a case of 47 chromosome complement with an extra rearranged chromosome 22pter→22qll:: llq23 → llqter in a child with multiple malformations whose mother has a balanced reciprocal translocation t(1l,22) with a history of two previous abortions. We emphasize the importance of family study in such cases.
متن کاملA rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21.
Partial duplication of the long arm of chromosome 11 and the partial trisomy of 22q are uncommon karyotypic abnormalities. Here, we report the case of a 6-year-old girl who showed partial trisomy of 11q and 22q, as a result of a maternal balanced reciprocal translocation (11;22), and exhibited dysmorphic features, severe intellectual disability, brain malformations, and speech delay related to ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 23 2 شماره
صفحات -
تاریخ انتشار 1986