Prenatally diagnosed de novo apparently balanced complex chromosome rearrangements: Two new cases and review of the literature

Journal Article · Fri Aug 23 04:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960823)64:3<478::AID-AJMG6>3.3.CO;2-7· OSTI ID:539404

Ruiz, C; Grubs, R E; Jewett, T ^[1]

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1. Bowman Gray School of Medicine of Wake Forest Univ., Winston-Salem, NC (United States); and others

Complex chromosome rearrangements (CCR) are rare structural rearrangements. Currently six cases of prenatally diagnosed balanced de novo CCR have been described. We present two new cases of prenatally ascertained balanced de novo CCR. In the first case, an amniocentesis revealed a balanced de novo three-way CCR involving chromosomes 5,6, and 11 with a pericentric inversion of chromosome 5 [four breaks]. In the second case a balanced de novo rearrangement was identified by amniocentesis which involved a reciprocal translocation between chromosomes 3 and 8 and a CCR involving chromosomes 6,7, and 18 [six breaks]. The use of whole chromosome painting helped elucidate the nature of these rearrangements. A review of the postnatally ascertained cases suggests that most patients have congenital anomalies, minor anomalies, and/or developmental delay/mental retardation. In addition, there appears to be a relationship between the number of chromosome breaks and the extent of phenotypic effects. The paucity of information regarding prenatally diagnosed CCR and the bias of ascertainment of postnatal CCR cases poses a problem in counseling families. 38 refs., 3 figs., 4 tabs.

• OSTI ID: 539404
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 64; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BANDING TECHNIQUES
CHROMOSOMAL ABERRATIONS
CHROMOSOME BREAKAGE
CONGENITAL MALFORMATIONS
DETECTION
DIAGNOSIS
FETUSES
HUMAN CHROMOSOME 18
HUMAN CHROMOSOME 3
HUMAN CHROMOSOME 5
HUMAN CHROMOSOME 6
HUMAN CHROMOSOME 7
HUMAN CHROMOSOME 8
HUMAN CHROMOSOMES
KARYOTYPE
MENTAL DISORDERS
PATIENTS
PHENOTYPE