Blepharophimosis syndrome (BPES) and additional abnormalities in a female with a balanced X:3 translocation

Clinical Dysmorphology

Volumn 5, Issue 3, 1996, Pages 259-261

  Karimi Nejad, Ariana ^a   Karimi Nejad, Roxana ^a   Najafi, Hamid ^b   Karimi Nejad, M H ^a  

^a Karimi Nejad Pathology and Genetic Center   (Iran)

^b SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

BLEPHAROPHIMOSIS; CASE REPORT; CHROMOSOME 3; FEMALE; GENE TRANSLOCATION; GENETICS; HUMAN; INFANT; LETTER; PTOSIS; SYNDROME; X CHROMOSOME;

BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CHROMOSOMES, HUMAN, PAIR 3; FEMALE; HUMANS; INFANT; SYNDROME; TRANSLOCATION, GENETIC; X CHROMOSOME;

EID: 0030184829     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Alvarado M, Bocian M, Walker AP (1987): Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype. Am J Med Genet 27: 781-786.
2. de la Chapelle A (1990) Sex chromosome abnormalities. In Emery AE, Rimoin DL (eds) "Principles and Practice of Medical Genetics", 2nd Edition. Edinburgh: Churchill Livingstone. 19: 279.
3. Fujita H, Meng J, Kawamura M, Tozuka N, Ishii F, Tanaka N (1992): Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome. Am J Med Genet 44: 434-436.
4. Fryns JP, Stromme P, Van den Berghe H (1993): Further evidence for the location of the Blepharophimosis syndrome (BPES) at 3q22.3-q23.
5. Jewett T, Rao PN, Weaver RG, Stewart W, Thomas IT, Pettenate MJ (1992): Review and gene assignment to the interface of band 3q22.3 and 3q23. Am J Med Genet 47(8): 1147-1150.