Prenatal detection of de novo inversion of chromosome (2) (p13q11.2) and postnatal follow-up

Prenatal Diagnosis

Volumn 16, Issue 4, 1996, Pages 366-370

  Kozma, Chahira ^a   Subasinghe, Cheryl ^a   Meck, Jeanne ^a  

^a GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Chromosome 2 inversion; De novo inversion; Gustatory flushing syndrome; Hypotonia; Pericentric inversion

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 2P; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; FEMALE; FETUS; FOLLOW UP; HEARING LOSS; HUMAN; INFANT; PERICENTRIC CHROMOSOME INVERSION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADULT; AMNIOCENTESIS; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 2; DEVELOPMENTAL DISABILITIES; FACIAL BONES; FEMALE; FLUSHING; FOLLOW-UP STUDIES; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; INVERSION, CHROMOSOME; MATERNAL AGE; MUSCLE HYPOTONIA; PREGNANCY; PREGNANCY COMPLICATIONS, NEOPLASTIC; PREGNANCY, HIGH-RISK; SKULL; THYROID NEOPLASMS;

EID: 0029991502     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199604)16:4<366::AID-PD863>3.0.CO;2-Z     Document Type: Article

References (8)

1. Baccichetti, C., Lenzini, E., Peserico, A., Tenconi, R. (1980). Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11q13) segment of chromosome 2, Clin. Genet., 18, 402-407.
2. Djalali, M., Steinbach, P., Bullerdiek, J., Holmes-Siedle, M., Verschraegen-Spae, M.R., Smith, A. (1986). The significance of pericentric inversions of chromosome 2, Hum. Genet., 72, 32-36.
3. Jacob, P.A., Melville, M., Ratcliffe, S. (1974). A cytogenetic survey of 11,680 newborn infants, Ann. Hum. Genet, 37, 359-376.
4. Kaiser, P. (1988). Pericentric inversion: their problems and clinical significance. In: Daniels, A. (Ed.). The Cytogenetics of Mammalian Autosomal Rearrangements, New York: Alan R. Liss.
5. Kozma, C., Gabriel, S. (1993). Gustatory flushing syndrome: a pediatric case report and a review of the literature. Clin. Pediatr., 32, 629-631.
6. Nielsen, J., Psilocin, I. (1975). Incidence of chromosome aberrations among 11,148 newborn children, Hum. Genet., 30, 1-12.
7. Phillips, R.B. (1978). Pericentric inversions inv(2)(p11q13) and inv(2)(p13q11) in 2 unrelated families, J. Med. Genet., 15, 388-390.
8. Warburton, D. (1991). De novo chromosome rearrangement and extra marker, Am. J. Hum. Genet., 49, 995-1013.