Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father
- 1 January 1983
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 14 (1) , 189-195
- https://doi.org/10.1002/ajmg.1320140125
Abstract
We report two sisters with a deficiency of band 2q32 that resulted from meiotic crossover events in their father, who is a balanced, intrachromosomal insertional translocation heterozygote. This three‐break rearrangement involving a single chromosome is among the rarest class of human structural chromosome abnormalities. A review confirms the theoretically predicted high risk of unbalanced progeny for such translocation heterozygotes. Fertility of carriers seems to be unimpaired in either sex. Available information is insufficient to define the effect of insertional translocation on homologue pairing, crossover frequency, and other meiotic phenomena.Keywords
This publication has 13 references indexed in Scilit:
- Chiasma distribution at diakinesis in the normal human maleHereditas, 2009
- A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalitiesClinical Genetics, 2008
- Complex chromosome rearrangements:Report of a new case and literature reviewClinical Genetics, 1980
- Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 → 7p21American Journal of Medical Genetics, 1979
- Distal 2q duplication: Report of two familial cases and an attempt to define a syndromeAmerican Journal of Medical Genetics, 1979
- Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.Journal of Medical Genetics, 1976
- Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1Clinical Genetics, 1976
- Presumptive direct insertion within chromosome 2 in manAnnals of Human Genetics, 1973