Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4.
نویسندگان
چکیده
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 the deletion of D4S10. These observations may prove helpful in the search for better genetic markers for Huntington's chorea, which maps close to D4S10.
منابع مشابه
Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study.
We present three cousins who have normal karyotypes, despite having clinical features of Wolf-Hirschhorn syndrome. Fluorescence in situ hybridisation techniques confirmed that all three relatives were monosomic for the distal short arm of chromosome 4 and that a cryptic translocation involving chromosomes 4 and 11 was segregating within the family. Segregation analysis indicated that the risk o...
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متن کاملWolf-Hirschhorn syndrome.
Chromosomal abnormalities are important cause of mental retardation and congenital anomalies. We report a case of a rare chromosomal disorder, Wolf-Hirschhorn syndrome, caused by deletion of short arm of chromosome 4. It was characterized by well-described facial appearance, seizures, microcephaly and midline closure defects along with growth and mental retardation.
متن کاملWolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH).
Wolf-Hirschhorn syndrome (WHS) is a disorder that affects many parts of the body. The major features of this condition include specific craniofacial malformations, delayed growth and development, intellectual disability and seizures. Here, we report a case of WHS: a 27-month-old girl with a microdeletion at distal part of short arm of chromosome 4. She had striking clinical features of WHS and ...
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عنوان ژورنال:
- Journal of medical genetics
دوره 24 7 شماره
صفحات -
تاریخ انتشار 1987