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[Ring chromosome 13 and multiple malformations (author's transl)].
An Esp Pediatr. 1981 Nov; 15(5):469-73.AE

Abstract

A male infant with a ring chromosome identified by R, D and G banding techniques is reported. Karyotype was 46, XY,r(13)(p12q22). The main clinical features were severe mental retardation, microcephaly, frontal bossing a peculiar Greek profile, microphtalmia, coloboma, high and narrowed palate, low-set ears and genital anomalies. The three groups in the 13q deletion syndrome proposed by Niebuhr and Ottosen (1973) are commented. These groups are based on clinical features and loss of segment in the long arms of chromosome 13. Our patient has many of the clinical features of the first group.

Authors

Antich J
No affiliation info available
Plaza J
No affiliation info available
Geán E
No affiliation info available

MeSH

Abnormalities, MultipleChromosome AberrationsChromosome BandingChromosome DeletionChromosome DisordersChromosomes, Human, 13-15HumansInfantIntellectual DisabilityKaryotypingMaleMicrocephaly

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

spa

PubMed ID

7332149

Citation

Antich, J, et al. "[Ring Chromosome 13 and Multiple Malformations (author's Transl)]." Anales Espanoles De Pediatria, vol. 15, no. 5, 1981, pp. 469-73.
Antich J, Plaza J, Geán E. [Ring chromosome 13 and multiple malformations (author's transl)]. An Esp Pediatr. 1981;15(5):469-73.
Antich, J., Plaza, J., & Geán, E. (1981). [Ring chromosome 13 and multiple malformations (author's transl)]. Anales Espanoles De Pediatria, 15(5), 469-73.
Antich J, Plaza J, Geán E. [Ring Chromosome 13 and Multiple Malformations (author's Transl)]. An Esp Pediatr. 1981;15(5):469-73. PubMed PMID: 7332149.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Ring chromosome 13 and multiple malformations (author's transl)]. AU - Antich,J, AU - Plaza,J, AU - Geán,E, PY - 1981/11/1/pubmed PY - 1981/11/1/medline PY - 1981/11/1/entrez SP - 469 EP - 73 JF - Anales espanoles de pediatria JO - An Esp Pediatr VL - 15 IS - 5 N2 - A male infant with a ring chromosome identified by R, D and G banding techniques is reported. Karyotype was 46, XY,r(13)(p12q22). The main clinical features were severe mental retardation, microcephaly, frontal bossing a peculiar Greek profile, microphtalmia, coloboma, high and narrowed palate, low-set ears and genital anomalies. The three groups in the 13q deletion syndrome proposed by Niebuhr and Ottosen (1973) are commented. These groups are based on clinical features and loss of segment in the long arms of chromosome 13. Our patient has many of the clinical features of the first group. SN - 0302-4342 UR - https://www.unboundmedicine.com/medline/citation/7332149/[Ring_chromosome_13_and_multiple_malformations__author's_transl_]_ L2 - http://www.diseaseinfosearch.org/result/1443 DB - PRIME DP - Unbound Medicine ER -