Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findings

Journal Article · Fri Jul 12 04:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-Q· OSTI ID:476905

Hamel, B C.J.; Smits, A P.T.; Helm, B van den ^[1]

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1. Univ. Hospital, Nijmegan (Netherlands); and others

We report on several members of a family with varying degrees of X-linked mental retardation (XLMR), isolated growth hormone deficiency (IGHD), and infantile behavior but without other consistent phenotypic abnormalities. Male patients continued to grow until well into their twenties and reached a height ranging from 135 to 159 cm. Except one, all female carriers were mentally normal; their adult height ranged from 159 to 168 cm. By linkage studies we have assigned the underlying genetic defect to the Xq24-q27.3 region, with a maximum lod score of Z = 3.26 at {theta} = 0.0 for the DXS294 locus. The XLMR-IGHD phenotype in these patients may be due to pleiotropic effects of a single gene or it may represent a contiguous gene syndrome. 18 refs., 6 figs., 3 tabs.

• OSTI ID: 476905
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 1 Vol. 64; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BEHAVIOR
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
GENE MUTATIONS
GENES
GENETIC MAPPING
GROWTH
HEREDITARY DISEASES
HUMAN X CHROMOSOME
MENTAL DISORDERS
PATIENTS
PHENOTYPE
STATISTICS
STH