X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: Linkage to Xp21.3-p22.12

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<50::AID-AJMG7>3.3.CO;2-4· OSTI ID:476907

Arena, J F; Lubs, H ^[1]; Schwartz, C ^[2]

---

1. Univ. of Miami School of Medicine, Miami, FL (United States)
2. Greenwood Genetic Center, SC (United States); and others

We reevaluated a family previously described as having nonspecific X-linked mental retardation (XLMR) by Snyder and Robinson (MINI 309583). Clinical and DNA studies were conducted on 17 relatives, including 6 males with mild-to-moderate mental retardation, 3 carrier females, and 8 normal males. In contrast to the normal appearance and minimal clinical findings reported 22 years ago, affected males were found to have a characteristic set of clinical findings. These developed gradually over the first 2 decades, and included thin body build with diminished muscle mass, osteoporosis and kyphoscoliosis, slight facial asymmetry with a prominent lower lip, nasal speech, high narrow or cleft palate, and long great toes. Carrier females were clinically normal. Multipoint linkage analysis indicated linkage to markers distal to the 3{prime} end of DMD (DXS41 and DXS989), with a maximal lod score of 4.7. On the basis of these findings, this entity is redefined as XLMR syndrome. 22 refs., 6 figs., 2 tabs.

• OSTI ID: 476907
• 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
CHROMOSOMAL ABERRATIONS
CROSSING-OVER
DNA SEQUENCING
GENE MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN X CHROMOSOME
L CODES
M CODES
MENTAL DISORDERS
MUTATION FREQUENCY
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
PROBES
SKELETAL DISEASES
STATISTICS