Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development

American Journal of Medical Genetics, Part A

Volumn 146, Issue 17, 2008, Pages 2293-2297

  Mardo, Veronica ^a,b,e   Squibb, Elizabeth E ^c   Braverman, Nancy ^a,b   Hoover Fong, Julie E ^a,b   Migeon, Claude ^d   Batista, Denise A S ^b,c   Thomas, George H ^a,b,c  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c KENNEDY KRIEGER INSTITUTE   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; TESTOSTERONE; TRANSCRIPTION FACTOR EMX2;

AMBIGUOUS GENITALIA; CASE REPORT; CHROMOSOME 10Q; CHROMOSOME DELETION; CHROMOSOME DELETION 10Q; COMPARATIVE GENOMIC HYBRIDIZATION; CRYPTORCHISM; CYTOGENETICS; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENITAL MALFORMATION; GENOTYPE; GROWTH RETARDATION; HUMAN; LETTER; MALE; ORCHIDOPEXY; ORCHIECTOMY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TESTOSTERONE BLOOD LEVEL;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 10; GENITALIA, MALE; HUMANS; KARYOTYPING; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 51449107118     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32316     Document Type: Letter

References (13)

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