Short stature in a mother and daughter with terminal deletion of Xp22.3

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 239-242

  Schwinger, Eberhard ^a,b   Kirschstein, Martin ^a   Greiwe, Monika ^a   Konermann, Thora ^a   Orth, Ulrike ^b   Gal, Andreas ^b  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF LÜBECK   (Germany)

Author keywords

deletion; short stature; X inactivation pattern; Xp

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME REPLICATION; CHROMOSOME XP; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE;

ADULT; ARYLSULFATASES; BODY HEIGHT; CHILD; CHROMOSOME DELETION; CHROMOSOME MAPPING; DIAGNOSIS, DIFFERENTIAL; DINUCLEOTIDE REPEATS; FEMALE; GENETIC MARKERS; HETEROZYGOTE DETECTION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PEDIGREE; POLYMORPHISM, GENETIC; STERYL-SULFATASE; X CHROMOSOME;

EID: 0029979534     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<239::AID-AJMG41>3.0.CO;2-M     Document Type: Article

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