De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia.
نویسندگان
چکیده
We present the perinatal findings of a fetus with a de novo unbalanced chromosome translocation that resulted in monosomy for proximal 14q and monosomy for distal 4p. Prenatal sonographic examination at 27 weeks of gestation showed intrauterine growth retardation, microcephaly, cardiomegaly with arrhythmia, and asymmetry of the upper limbs. Genetic amniocentesis showed an abnormal karyotype of 45,XX,der(4)t(4;14)(p16.3;q12),-14. Linkage analysis of the family confirmed the maternal origin of the deletions. Molecular refinement of the deletion breakpoints indicated that the breakpoints at 4p16.3 and 14q12 were located between loci D4S403 (present) and D4S394 (absent), and between loci D14S252 (present) and D14S64 (absent), respectively. Necropsy showed dysmorphic features compatible with Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, partial hemihypoplasia, and a normal brain without evidence of holoprosencephaly. Our case adds to the list of clinical phenotypes associated with the proximal regions of 14q.
منابع مشابه
Electronic letter Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH
EDITOR—In the October 2000 issue of the journal, five new cases of unbalanced translocations with partial monosomy 4p and partial trisomy 8p were described by Wieczorek et al and the authors concluded that de novo translocations causing Wolf-Hirschhorn syndrome (WHS) are more frequent than previously estimated. In particular, unbalanced de novo translocations involving the short arms of chromos...
متن کاملTwo further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH.
EDITOR—In the October 2000 issue of the journal, five new cases of unbalanced translocations with partial monosomy 4p and partial trisomy 8p were described by Wieczorek et al and the authors concluded that de novo translocations causing Wolf-Hirschhorn syndrome (WHS) are more frequent than previously estimated. In particular, unbalanced de novo translocations involving the short arms of chromos...
متن کاملWolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4.
We report a family in which Wolf-Hirschhorn syndrome in two children with partial monosomy of the short arm of chromosome 4 is the result of unbalanced segregation of a reciprocal 4;12 translocation in the mother. Studies with the DNA probe G8 show that the translocation breakpoint in this family is distal to the D4S10 locus. Previously reported cases of Wolf-Hirschhorn syndrome have involved t...
متن کاملTranslocation form of Wolf-Hirschhorn syndrome --assessment of recurrence rate probability.
PURPOSE The families experienced by occurrence of child with Wolf-Hirschhorn syndrome (WHS: OMIM # 194190) and by other unfavourable pregnancy outcomes (miscarriages or stillbirths/early deaths and partial trisomy 4p imbalance leading to intellectual disability in live born progeny) are asking for genetic counseling. In order to obtain the recurrence probability rates for the particular forms o...
متن کاملIsolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.
A fetus with severe sacral agenesis and intrauterine growth retardation, ascertained at prenatal diagnosis, was found to be carrying an unbalanced form of a paternal balanced reciprocal translocation (7;19)(q36.1;q13.43), resulting in functional monosomy for 7q36.1-->qter. Necropsy confirmed that the fetus had isolated sacral agenesis type II. A critical region for autosomal dominant sacral age...
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عنوان ژورنال:
- Journal of medical genetics
دوره 35 12 شماره
صفحات -
تاریخ انتشار 1998