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[Partial trisomy of the short arm of chromosome 3. Case report and phenotype expression].
Monatsschr Kinderheilkd. 1991 Dec; 139(12):841-3.MK

Abstract

A female infant with partial trisomy 3p, facial dysmorphism, cleft palate and severe psychomotor retardation is described. Cytogenetic evaluation revealed a paternal balanced translocation which could also be detected in three relatives of the father. The observed clinical features of the patient are discussed by comparison with 47 previously reported cases.

Authors+Show Affiliations

Abteilung für Medizinische Genetik, Fakultätskliniken, Karls-Universität, Prag.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

1770961

Citation

Frankova, Y E., et al. "[Partial Trisomy of the Short Arm of Chromosome 3. Case Report and Phenotype Expression]." Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde, vol. 139, no. 12, 1991, pp. 841-3.
Frankova YE, Holenova H, Braulke I. [Partial trisomy of the short arm of chromosome 3. Case report and phenotype expression]. Monatsschr Kinderheilkd. 1991;139(12):841-3.
Frankova, Y. E., Holenova, H., & Braulke, I. (1991). [Partial trisomy of the short arm of chromosome 3. Case report and phenotype expression]. Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde, 139(12), 841-3.
Frankova YE, Holenova H, Braulke I. [Partial Trisomy of the Short Arm of Chromosome 3. Case Report and Phenotype Expression]. Monatsschr Kinderheilkd. 1991;139(12):841-3. PubMed PMID: 1770961.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Partial trisomy of the short arm of chromosome 3. Case report and phenotype expression]. AU - Frankova,Y E, AU - Holenova,H, AU - Braulke,I, PY - 1991/12/1/pubmed PY - 1991/12/1/medline PY - 1991/12/1/entrez SP - 841 EP - 3 JF - Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde JO - Monatsschr Kinderheilkd VL - 139 IS - 12 N2 - A female infant with partial trisomy 3p, facial dysmorphism, cleft palate and severe psychomotor retardation is described. Cytogenetic evaluation revealed a paternal balanced translocation which could also be detected in three relatives of the father. The observed clinical features of the patient are discussed by comparison with 47 previously reported cases. SN - 0026-9298 UR - https://www.unboundmedicine.com/medline/citation/1770961/[Partial_trisomy_of_the_short_arm_of_chromosome_3__Case_report_and_phenotype_expression]_ L2 - https://www.malacards.org/card/partial_duplication_of_the_short_arm_of_chromosome_3 DB - PRIME DP - Unbound Medicine ER -