Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome [1]

American Journal of Medical Genetics, Part A

Volumn 140, Issue 20, 2006, Pages 2236-2240

  Parker, Elizabeth A ^a   Hovanes, Karine ^b   Germak, John ^c   Porter, Forbes ^a   Merke, Deborah P ^a,d  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b Esoterix Inc   (United States)

^c NOVO NORDISK INC   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLOMIFENE CITRATE; CORTICOTROPIN; DOPAMINE; HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE;

ADULT; ARTIFICIAL VENTILATION; CASE REPORT; CESAREAN SECTION; CHROMOSOME 6; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; CORTICOTROPIN TEST; FEMALE; FETUS; FETUS ECHOGRAPHY; HUMAN; HYPOTENSION; KARYOTYPING; KLINEFELTER SYNDROME; LETTER; MARKER CHROMOSOME; NEONATAL RESPIRATORY DISTRESS SYNDROME; NONDISJUNCTION; OLIGOHYDRAMNIOS; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SOUTHERN BLOTTING; STEROID 21 MONOOXYGENASE DEFICIENCY; SYMPTOM; UNIPARENTAL DISOMY; X CHROMOSOME;

ADRENAL HYPERPLASIA, CONGENITAL; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, X; HUMANS; KARYOTYPING; KLINEFELTER SYNDROME; MALE; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; STEROID 21-HYDROXYLASE; UNIPARENTAL DISOMY;

EID: 33749482252     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31408     Document Type: Letter

References (14)

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