Inherited inverted duplication of X chromosome in a male: Report of a patient and review of the literature

American Journal of Medical Genetics

Volumn 72, Issue 4, 1997, Pages 409-414

  Shapira, Moshe ^a   Dar, Hanna ^b   Bar El, Hanna ^b   Bar Nitzan, Noga ^b   Even, Lea ^b   Borochowitz, Zvi ^b  

^a Maccabi Clinic/Pediatrics   (Israel)

^b BNAI ZION MEDICAL CENTER   (Israel)

Author keywords

Duplication of chromosome; Growth hormone deficiency; Hypothyroidism; Mental and growth retardation; X chromosome

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHROMOSOME DUPLICATION; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE REARRANGEMENT; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MOSAICISM; PATERNAL AGE; PRESCHOOL CHILD; PRIORITY JOURNAL;

CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; DEVELOPMENTAL DISABILITIES; FACIES; GENITALIA, MALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; SYNDROME; X CHROMOSOME;

EID: 0030777689     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971112)72:4<409::AID-AJMG7>3.0.CO;2-L     Document Type: Article

References (19)

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