Multiple recurrence of trisomy 21 in two Bedouin families: Parental gonadal mosaicism or {open_quotes}aneuploidy{close_quotes} gene effect?

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:135564

Farag, T I; Murthy, D S.K. ^[1]

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1. Kuwait Medical Genetics Centre, Sulibikhat (Kuwait)

Two unrelated multiplex Down syndrome families is reported in Kuwait among the highly inbred population with Bedouin ancestors. Each family showed recurrent aneuploidies in three sibs with regular trisomy 21. Recurrent regular trisomy 21 in two or more siblings of healthy, normal parents (parental age <35 years) occurs rarely. Several possible etiological factors for recurrent aneuploidy have been suggested. The recurrence risks for regular trisomy 21 based on livebirth and prenatal diagnosis data were estimated at 1% - 2% for young women. However, there are no estimates for multiple recurrence of regular trisomy 21 in the young parents (<35 years). Clustering of trisomy 21 and trisomy 18 have been observed in Bedouin tribal population. The possibility of parental gonadal mosaicism and/or a possibility of an {open_quotes}aneuploidy gene{close_quotes} effect should be considered in practical genetic counselling of families with multiple recurrence of trisomy 21.

• OSTI ID: 135564
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ANEUPLOIDY
CHROMOSOMAL ABERRATIONS
DOWNS SYNDROME
ETIOLOGY
GENES
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 21
KUWAIT
MOSAICISM
PATIENTS
RISK ASSESSMENT