Mental retardation/shortness of stature/multiple minor anomalies syndrome associated with insertion of 3q material into 18p

Journal Article · Mon Mar 13 00:00:00 EST 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320560110· OSTI ID:99072

Al-Attia, H M; Sedaghatian, M R ^[1]

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1. Mafraq Hospital, Abu Dhabi (United Arab Emirates)

This is a case report of a 16-year-old Arab girl with mental subnormality, shortness of stature and multiple minor phenotypic anomalies. She is obese with normal secondary sexual characteristics, and has a speech deficit. Cytogenetic studies showed a 46,XX,dir ins (18;3)(p11.1;q13.2{yields}q25). The chromosome arrangement appeared balanced. Her condition is not a recognizable specific syndrome; thus, it remained unclear as to whether her condition is attributable to disruption of 3q or 18p or both. Further cytogenetic analysis by molecular biologists is required to solve this problem. 9 refs., 3 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 99072
• Journal Information: American Journal of Medical Genetics, Vol. 56, Issue 1; Other Information: PBD: 13 Mar 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 3
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
HUMAN CHROMOSOME 18
PATIENTS
MENTAL DISORDERS
CONGENITAL MALFORMATIONS
PHENOTYPE
BANDING TECHNIQUES
KARYOTYPE