Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of Del(22q11.2) syndrome?

American Journal of Medical Genetics

Volumn 99, Issue 4, 2001, Pages 280-285

  Schulze, Birgit R B ^a   Tariverdian, Gholamali ^a   Komposch, Gerda ^a   Stellzig, Angelika ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

22q11.2 microdeletion; Bilateral cleft lip and palate; Brain anomaly; CA TCH22; Heart defect; Holoprosencephaly; Median facial dysplasia; Psychological finding; Psychomotor retardation; Rudimentary premaxilla; Single central maxillary incisor; Vascular anomaly; Velocardio facial syndrome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CLEFT LIP FACE PALATE; CLINICAL FEATURE; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MALE; MALFORMATION SYNDROME; PRIORITY JOURNAL; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BRAIN; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CLEFT LIP; CLEFT PALATE; CRANIOFACIAL ABNORMALITIES; DIAGNOSIS, DIFFERENTIAL; HOLOPROSENCEPHALY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MAGNETIC RESONANCE IMAGING; MALE; VARIATION (GENETICS);

EID: 0035313919     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1178     Document Type: Article

References (27)

1. Further delineation of brain anomalies in velo-cardio-facial syndrome
2. Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities
3. The face predicts the brain: Diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly)
4. Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome
5. A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
6. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome
7. De novo 7q36 deletion: Breakpoint analysis and types of holoprosencephaly
8. Microdeletion 22q11.2: Clinical data and deletion size
9. Magnetic resonance angioplasty for prepharyngoplasty assessment in velo-cardio-facial syndrome
10. Abnormal carotid arteries in the velo-cardio-facial syndrome: Report of three cases
11. Absence of the superior labial frenulum in holoprosencephaly: A new diagnostic sign
12. The Philadelphia story: The 22q11.2 deletion: Report on 250 patients
13. Holoprosencephaly: From Homer to Hedgehog
14. Brain anomalies in velo-cardiofacial syndrome
15. Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly
16. Linkage of a human malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity
17. Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome
18. Median facial dysgenesis in cleft lip and palate
19. Median facial dysplasia in unilateral and bilateral cleft lip and palate: A subgroup of median cerebrofacial malformations
20. Physical mapping of the holoprosencephaly critical region in 18p11.3
21. Hearing loss and otitis media in velo-cardio-facial syndrome
22. Mutations in the human Sonic hedgehog gene cause holoprosencephaly
23. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
24. Molecular characterization of breakpoints in patients with holoprosencephaly and definition of HPE2 critical region in 2p21
25. ENT manifestations of VCFS
26. Human malformations and related anomalies
27. Velo-cardio-facial syndrome presenting as holoprosencephaly