X-linked recessive inheritance of radial ray deficiencies in a family with four affected males

European Journal of Human Genetics

Volumn 9, Issue 9, 2001, Pages 653-658

  Galjaard, Robert Jan H ^a   Kostakoglu, Naci ^b   Hoogeboom, Jeannette J M ^a   Breedveld, Guido J ^a   Van Der Linde, Herma C ^a   Hovius, Steven E R ^b   Oostra, Ben A ^a   Sandkuijl, Lodewijk A ^a   Akarsu, A Nurten ^b   Heutink, Peter ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Linkage mapping; Radial ray deficiency; X linked recessive

Indexed keywords

ADULT; ARM MALFORMATION; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MALFORMATION; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILY; FEMALE; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC MARKER; HAPLOTYPE; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RADIAL RAY DEFICIENCY; RADIUS; RELATIVE; SCORING SYSTEM; SEGREGATION ANALYSIS; THUMB; X CHROMOSOME; X CHROMOSOME RECESSIVE INHERITANCE;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHILD, PRESCHOOL; DNA; FAMILY HEALTH; FATAL OUTCOME; FEMALE; HAPLOTYPES; HUMANS; INFANT; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; PEDIGREE; RADIUS; THUMB; X CHROMOSOME;

EID: 0034803963     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200692     Document Type: Article

References (24)

1. Upper limb deficiencies and associated malformations: A population-based study
2. Radial defects
3. VACTERL with hydrocephalus: Family with X-linked VACTERL-H
4. VACTERL with hydrocephalus and branchial arch defects: Prenatal, clinical, and autopsy findings in two brothers
5. X-linked phenotype of absent radius and anogenital anomalies
6. A simple salting out procedure for extracting DNA from human nucleated cells
7. The Généthon human genetic linkage map
8. Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping
9. Abudant class of human DNA polymorphisms which can be typed using polymerase chain reaction
10. Easy calculations of lodscores and genetic risks on a small computer
11. X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content
12. Thrombocytopenia and absent radius (TAR) syndrome
13. The need for more accurate and timely diagnosis in Fanconi anemia: A report from the International Fanconi Anemia Registry
14. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
15. Mutations in human limb and cardiac malformation in Holt-Oram syndrome
16. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
17. Aplasia and hypoplasia of the radius
18. Radial clubhand
19. Magnetic resonance imaging to visualize the internal anatomy in the Baller-Gerold syndrome
20. Limb development in the polydactylous talpid3 mutant of the fowl
21. Cell death in the "opaque patch" in the central mesenchyme of the developing chick limb: A cytological, cytochemical and electron microscopic analysis
22. Assignment of human inhibitor of apoptosis protein (IAP) genes xiap, hiap-1, and hiap-2 to chromosomes Xq25 and 11q22-23 by fluorescence in situ hybridization
23. Suppression of apoptosis in mammalian cells by NAIP and a related ramily of IAP genes
24. Identification of a new member (ZNF183) of the Ring finger gene family in Xq24-25