X-linked mental retardation with heterozygous expression and macrocephaly: Pericentromeric gene localization

Journal Article · Fri Jul 15 00:00:00 EDT 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320510456· OSTI ID:62058

Turner, G ^[1]; Gedeon, A ^[2]; Mulley, J ^[2]

---

1. Prince of Wales Children`s Hospital, Randwick (Australia)
2. Adelaide Children`s Hospital (Australia)

A family is described with X-linked mental retardation (XLMR) with affected males in 2 generations. The manifestations are macrocephaly and heterozygous expression. Linkage analysis gives a 2-point lod score of 3.31 ({theta} = 0.0) at the AR, DXS991, and MAOB marker loci. The gene is localized by recombination events between DXS1068 (Xp) and DXS1125 (Xq). This condition in this family may be similar to that described by Atkin et al., 1985. 9 refs., 3 figs., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 62058
• Journal Information: American Journal of Medical Genetics, Vol. 51, Issue 4; Other Information: PBD: 15 Jul 1994
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN X CHROMOSOME
GENETIC MAPPING
GENES
GENE RECOMBINATION
PATIENTS
HEREDITARY DISEASES
MENTAL DISORDERS
POLYMERASE CHAIN REACTION
CENTROMERES
STATISTICAL MODELS
PHENOTYPE