Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||Unbalanced t(4;11)(q32-q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes|
|Citation:||American Journal of Medical Genetics, 1997; 70(4):357-360|
|Byatt, S A ; Baker, E ; Richards, R I ; Roberts, C; Smith, A|
|Abstract:||We present a 34-year-old man with an unbalanced translocation between the long arms of chromosome 4 and chromosome 11. He had manifestations of monosomy 11(q23)--minor facial anomalies, abnormal head shape, cryptorchidism; trisomy 4(q32)--hirsutism, renal disease; and manifestations attributable to both imbalances--heart disease, musculoskeletal anomalies, and mental retardation. FISH studies showed that the chromosome 11q23.3 translocation breakpoint was distal to the rare folate sensitive fragile site (FRA11B). The patient is the oldest reported with both imbalance of 4q+ and 11q-.|
|Keywords:||Head; Face; Chromosomes, Human, Pair 4; Chromosomes, Human, Pair 11; Humans; Musculoskeletal Abnormalities; Mental Retardation; Monosomy; Trisomy; Translocation, Genetic; In Situ Hybridization, Fluorescence; Phenotype; Adult; Female; Male|
|Appears in Collections:||Paediatrics publications|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.