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New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3.
Am J Med Genet. 1996 Jul 12; 64(1):42-9.AJ

Abstract

X-linked mental retardation (XLMR) is genetically heterogeneous and clinically variable. We describe a new XLMR syndrome of severe mental retardation and multiple congenital anomalies. Two sisters have (with 3 different partners) 3 severely handicapped sons. In 2 cases, oligohydramnios and intrauterine growth retardation were noted. Common anomalies included a square-shaped face, high and broad forehead, frontal bossing, downward slant of palpebral fissures, hypertelorism, epicanthic folds, long philtrum, thin upper lip, and apparently low-set ears. One boy has bilateral microphthalmos and sclerocornea, and his cousin has atrophy of the optic nerve. All 3 patients are blind and have profound statomotor and mental retardation, seizures, and a grossly abnormal electroencephalographic pattern. Additional findings are short stature, delayed bone maturation, hydronephrosis, vesicorenal reflux, cryptorchidism, clinodactyly of the 5th fingers, and transverse palmar creases. The karyotype is normal (46,XY). Segregation analysis showed perfect coinheritance between the clinical phenotype and alleles at several loci in Xp22.3, whereas recombinants were identified with marker loci from Xp22.2-qter. Analysis of multiple informative meioses suggests that the disease locus maps in Xp22.3 distal to DXS16.

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Authors+Show Affiliations

Wittwer B
Institut für Humangenetik der Universität, Münster, Germany.
Kircheisen R
No affiliation info available
Leutelt J
No affiliation info available
Orth U
No affiliation info available
Gal A
No affiliation info available

MeSH

Abnormalities, MultipleChromosome MappingFemaleGenetic LinkageHumansInfant, NewbornIntellectual DisabilityMalePedigreeSyndromeX Chromosome

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8826447

Citation

Wittwer, B, et al. "New X-linked Mental Retardation Syndrome With the Gene Mapped Tentatively in Xp22.3." American Journal of Medical Genetics, vol. 64, no. 1, 1996, pp. 42-9.
Wittwer B, Kircheisen R, Leutelt J, et al. New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3. Am J Med Genet. 1996;64(1):42-9.
Wittwer, B., Kircheisen, R., Leutelt, J., Orth, U., & Gal, A. (1996). New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3. American Journal of Medical Genetics, 64(1), 42-9.
Wittwer B, et al. New X-linked Mental Retardation Syndrome With the Gene Mapped Tentatively in Xp22.3. Am J Med Genet. 1996 Jul 12;64(1):42-9. PubMed PMID: 8826447.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3. AU - Wittwer,B, AU - Kircheisen,R, AU - Leutelt,J, AU - Orth,U, AU - Gal,A, PY - 1996/7/12/pubmed PY - 2000/6/20/medline PY - 1996/7/12/entrez SP - 42 EP - 9 JF - American journal of medical genetics JO - Am J Med Genet VL - 64 IS - 1 N2 - X-linked mental retardation (XLMR) is genetically heterogeneous and clinically variable. We describe a new XLMR syndrome of severe mental retardation and multiple congenital anomalies. Two sisters have (with 3 different partners) 3 severely handicapped sons. In 2 cases, oligohydramnios and intrauterine growth retardation were noted. Common anomalies included a square-shaped face, high and broad forehead, frontal bossing, downward slant of palpebral fissures, hypertelorism, epicanthic folds, long philtrum, thin upper lip, and apparently low-set ears. One boy has bilateral microphthalmos and sclerocornea, and his cousin has atrophy of the optic nerve. All 3 patients are blind and have profound statomotor and mental retardation, seizures, and a grossly abnormal electroencephalographic pattern. Additional findings are short stature, delayed bone maturation, hydronephrosis, vesicorenal reflux, cryptorchidism, clinodactyly of the 5th fingers, and transverse palmar creases. The karyotype is normal (46,XY). Segregation analysis showed perfect coinheritance between the clinical phenotype and alleles at several loci in Xp22.3, whereas recombinants were identified with marker loci from Xp22.2-qter. Analysis of multiple informative meioses suggests that the disease locus maps in Xp22.3 distal to DXS16. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8826447/New_X_linked_mental_retardation_syndrome_with_the_gene_mapped_tentatively_in_Xp22_3_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=64&issue=1&spage=42 DB - PRIME DP - Unbound Medicine ER -