Atypical phenotype in a female with a large Xp deletion [1]

American Journal of Medical Genetics

Volumn 104, Issue 1, 2001, Pages 81-83

  Thomas, N Simon ^a   Huson, Susan M ^b  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; CHROMOSOME XP; CLINICAL FEATURE; CYTOGENETICS; FEMALE; FEMALE FERTILITY; HUMAN; LETTER; OVARY DISEASE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; CHROMOSOME DELETION; FEMALE; HUMANS; KARYOTYPING; OVARIAN FAILURE, PREMATURE; PHENOTYPE; X CHROMOSOME;

EID: 0035889283     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1583     Document Type: Letter

References (9)

1. A study of females with deletions of the short arm of the X chromosome
2. Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features
3. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
4. Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height
5. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: A hypothesis
6. Molecular and cytogenetic analysis of familial Xp deletions
7. Del (X) (p21.2) in a mother and two daughters with variable ovarian function
8. Evidence for a Turner syndrome locu or loci at Xp11.2-p22.1
9. Short stature and premature ovarian failure in proximal Xp