Prenatal diagnosis of Smith-Magenis syndrome (del 17p11.2)

Fetal Diagnosis and Therapy

Volumn 15, Issue 6, 2000, Pages 335-337

  Thomas, Dafydd G ^a   Jacques, Suzanne M ^a   Flore, Leigh Anne ^a   Feldman, Baruch ^a   Evans, Mark I ^a   Qureshi, Faisal ^a,b  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HUTZEL HOSPITAL   (United States)

Author keywords

Chromosome 17; Microdeletion 17p11.2; Prenatal diagnosis; Smith Magenis syndrome

Indexed keywords

AMNIOCENTESIS; ARTICLE; AUTOPSY; CASE REPORT; CHROMOSOME 17P; FETUS; FETUS ECHOGRAPHY; HUMAN; PRIORITY JOURNAL; SMITH MAGENIS SYNDROME;

EID: 0033662737     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000021032     Document Type: Article

References (10)

1. Interstitial deletion of (17)(p11.2p11.2) in nine patients
2. Interstitial deletion of (17)(p11.2p11.2). Report of six additional patients with a new chromosome deletion syndrome
3. Deletion of the 17 short arm in two patients with facial clefts and congenital heart disease
4. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
5. Prenatal diagnosis of interstitial deletion of 17(p11.2p11.2) (Smith-Magenis syndrome)
6. Appendix 26: Means and standard deviations of weights and measurements of stillborn infants by gestational age
7. Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del (17)(p11.2)
8. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients
9. Contiguous gene syndromes: A component of recognizable syndromes
10. On the parental origin of de novo mutation in man