A SEVERELY MENTALLY AND MOTOR RETARDED GIRL WITH MONOSOMY 3pter -> p25 AND TRISOMY 8q24 -> qter DUE TO A FAMILIAL RECIPROCAL TRANSLOCATION t(3;8)(p25;q24)


Balci S., Aypar E., Beksac M. S. , Bartsch O.

GENETIC COUNSELING, vol.20, no.2, pp.125-132, 2009 (Peer-Reviewed Journal) identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 2
  • Publication Date: 2009
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded
  • Page Numbers: pp.125-132

Abstract

A severely mentally and motor retarded girl with monosomy 3pter -> p25 and trisomy 8q24 -> qter due to a familial reciprocal translocation 1(3;8) (p25:q24): We report a familial translocation t(3;8) in a three generation family that includes a severely retarded 9-year-old girl with intrauterine and postnatal growth retardation, microcephaly, capillary hemangiomas of the forehead and perioral region, synophrys, ptosis, long philtrum, high arched palate, micrognathia, malformed ears, clinodactyly, hypotonia, mental and motor retardation. The pedigree was highly suggestive of a familial rearrangement. Cytogenetics and fluorescent in situ hybridization (FISH) showed an unbalanced translocation of chromosomes 3p25 and 8q24 of maternal origin, karyotype 46,XX,der(3)t(3;8)(p25q24)mat. Using FISH the breakpoint at 8q24 was located distal of TRPS1, the gene for trichorhinophalangeal syndrome. The balanced translocation was found in the mother, maternal grandmother and prenatally diagnosed brother. Ten individuals (seven miscarriages, niece, two nephews) probably also had an unbalanced translocation. Genetic counseling was given to the family. Because of the hemizygous deletion of the VHL gene at chromosome 3p25.3., the patient is at risk for von Hippel-Lindau (VHL) syndrome, predisposing to retinal, cerebellar, spinal haemangioblastomas, renal cell carcinoma, phaeochromocytoma and pancreatic tumors. Therefore, for early detection and treatment of VHL syndrome, we performed periodic screening beginning at age 5 years. A familial translocation t(3;8) is very rare and there are no previous reports on terminal monosomy 3p (pter -> p25) and terminal trisomy 8q (q24 -> qter).