Semilobar holoprosencephaly in a 46,XY female fetus

Prenatal Diagnosis

Volumn 21, Issue 10, 2001, Pages 839-841

  Witters, Ingrid ^a   Moerman, Philippe ^a   Muenke, Maximilian ^a   Van Assche, Frans Andr ^a   Devriendt, Koen ^b   Legius, Eric ^b   Van Schoubroeck, Dominique ^a   Fryns, Jean Pierre ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

CNS malformation; Holoprosencephaly; Prenatal diagnosis; Sex reversal

Indexed keywords

ARTICLE; CASE REPORT; FEMALE; FETUS; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; HOLOPROSENCEPHALY; HUMAN; KARYOTYPE 46,XY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEX TRANSFORMATION;

ADULT; FEMALE; GESTATIONAL AGE; HOLOPROSENCEPHALY; HUMANS; KARYOTYPING; MALE; PREGNANCY; SEX DIFFERENTIATION DISORDERS; ULTRASONOGRAPHY, PRENATAL;

EID: 0035165070     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.151     Document Type: Article

References (20)

1. Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols
2. Middle interhemispheric fusion: An unusual variant of holoprosencephaly
3. Deletion 9p and sex reversal
4. Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus
5. Mutations in SRY and SOX9: Testis-determining genes
6. Holoprosencephaly and facial dysmorphia: Nosology, etiology and pathogenesis
7. Middle interhemispheric fusion
8. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism
9. The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly)
10. Conference report: 9th International Workshop on Fragile X Syndrome and X-Linked Mental Retardation
11. Holoprosencephaly: A defect in brain patterning
12. Limb, genital, CNS, and facial malformations result from gene/environment-induced cholesterol deficiency: Further evidence for a link to sonic hedgehog
13. Holoprosencephaly and related midline cerebral anomalies: A review
14. A complete set of human telomeric probes and their clinical application
15. Syndromal (and nonsyndromal) forms of male pseudohermaphroditism
16. Holoprosencephaly: Defects of the mediobasal prosencephalon
17. Role of cholesterol in embryonic development
18. First-trimester diagnosis of Smith-Lemli-Opitz syndrome
19. Mutations in holoprosencephaly