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Dandy-Walker malformation in an infant with tetrasomy 9p.
Brain Dev. 2003 Apr; 25(3):220-3.BD

Abstract

An infant with Dandy-Walker malformation and prenatally diagnosed tetrasomy 9p is reported. Chromosomal analysis of primary amniocyte culture revealed true mosaicism for two cell lines: 50% of the cells had an isochromosome 9p (pter-q13::q13-pter), and the other 50% showed a normal female karyotype (46,XX). After birth the same chromosomal abnormality was found in 75% of peripheral blood lymphocytes. Phenotypic features included intrauterine growth retardation, hypotrophy of the left side of the body with left microphthalmus, and progressive hydrocephalus secondary to Dandy-Walker malformation. Although most cases of Dandy-Walker malformation are not associated with chromosomal abnormalities, our case, together with two previously reported cases of the same association, indicates that this chromosomal disorder should be looked for in children with Dandy-Walker malformation and abnormal somatic development.

Authors+Show Affiliations

Neuropediatric Unit, Hospital Virgen de la Salud, Avenida de Barber 30, 45004 Toledo, Spain. rcazorla@cht.insalud.esNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12689705

Citation

Cazorla Calleja, María R., et al. "Dandy-Walker Malformation in an Infant With Tetrasomy 9p." Brain & Development, vol. 25, no. 3, 2003, pp. 220-3.
Cazorla Calleja MR, Verdú A, Félix V. Dandy-Walker malformation in an infant with tetrasomy 9p. Brain Dev. 2003;25(3):220-3.
Cazorla Calleja, M. R., Verdú, A., & Félix, V. (2003). Dandy-Walker malformation in an infant with tetrasomy 9p. Brain & Development, 25(3), 220-3.
Cazorla Calleja MR, Verdú A, Félix V. Dandy-Walker Malformation in an Infant With Tetrasomy 9p. Brain Dev. 2003;25(3):220-3. PubMed PMID: 12689705.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dandy-Walker malformation in an infant with tetrasomy 9p. AU - Cazorla Calleja,María R, AU - Verdú,Alfonso, AU - Félix,Valentin, PY - 2003/4/12/pubmed PY - 2003/7/10/medline PY - 2003/4/12/entrez SP - 220 EP - 3 JF - Brain & development JO - Brain Dev VL - 25 IS - 3 N2 - An infant with Dandy-Walker malformation and prenatally diagnosed tetrasomy 9p is reported. Chromosomal analysis of primary amniocyte culture revealed true mosaicism for two cell lines: 50% of the cells had an isochromosome 9p (pter-q13::q13-pter), and the other 50% showed a normal female karyotype (46,XX). After birth the same chromosomal abnormality was found in 75% of peripheral blood lymphocytes. Phenotypic features included intrauterine growth retardation, hypotrophy of the left side of the body with left microphthalmus, and progressive hydrocephalus secondary to Dandy-Walker malformation. Although most cases of Dandy-Walker malformation are not associated with chromosomal abnormalities, our case, together with two previously reported cases of the same association, indicates that this chromosomal disorder should be looked for in children with Dandy-Walker malformation and abnormal somatic development. SN - 0387-7604 UR - https://www.unboundmedicine.com/medline/citation/12689705/Dandy_Walker_malformation_in_an_infant_with_tetrasomy_9p_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0387760402002115 DB - PRIME DP - Unbound Medicine ER -