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[Trisomy 5p: a report of 2 cases].
An Esp Pediatr. 1985 Mar 31; 22(4):288-92.AE

Abstract

Authors report two patients from different families who present similar abnormalities caused by an "almost complete" trisomy of the short arm of chromosome 5 [case No. 1: 46, XY, der (20), t (5; 20) (p11;p13), mat; case No.2: 46, XY, dup (5p)]. Several family members of case No. 1 were balanced translocation carriers. Case No. 2 is probably due to de novo duplication. Clinical findings in our cases and those cited in the literature allow identification of certain main features characteristic of "almost complete" trisomy 5p: hypotonia, weak cry, mongoloid slant of eyes, epicanthus, depressed nasal bridge, auricular anomalies, bilateral cryptorchidism and, less frequently, macrocephaly, micrognathia and club feet.

Authors

Alvarez-Coca J
No affiliation info available
García-Alix A
No affiliation info available
Delicado A
No affiliation info available
González M
No affiliation info available
Escribá R
No affiliation info available
López Pajares I
No affiliation info available
Morena V
No affiliation info available
Peralta A
No affiliation info available

MeSH

Abnormalities, MultipleChromosome AberrationsChromosome DisordersChromosomes, Human, 4-5HumansInfantInfant, NewbornKaryotypingMalePedigreeSyndromeTrisomy

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

spa

PubMed ID

4003955

Citation

Alvarez-Coca, J, et al. "[Trisomy 5p: a Report of 2 Cases]." Anales Espanoles De Pediatria, vol. 22, no. 4, 1985, pp. 288-92.
Alvarez-Coca J, García-Alix A, Delicado A, et al. [Trisomy 5p: a report of 2 cases]. An Esp Pediatr. 1985;22(4):288-92.
Alvarez-Coca, J., García-Alix, A., Delicado, A., González, M., Escribá, R., López Pajares, I., Morena, V., & Peralta, A. (1985). [Trisomy 5p: a report of 2 cases]. Anales Espanoles De Pediatria, 22(4), 288-92.
Alvarez-Coca J, et al. [Trisomy 5p: a Report of 2 Cases]. An Esp Pediatr. 1985 Mar 31;22(4):288-92. PubMed PMID: 4003955.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Trisomy 5p: a report of 2 cases]. AU - Alvarez-Coca,J, AU - García-Alix,A, AU - Delicado,A, AU - González,M, AU - Escribá,R, AU - López Pajares,I, AU - Morena,V, AU - Peralta,A, PY - 1985/3/31/pubmed PY - 1985/3/31/medline PY - 1985/3/31/entrez SP - 288 EP - 92 JF - Anales espanoles de pediatria JO - An Esp Pediatr VL - 22 IS - 4 N2 - Authors report two patients from different families who present similar abnormalities caused by an "almost complete" trisomy of the short arm of chromosome 5 [case No. 1: 46, XY, der (20), t (5; 20) (p11;p13), mat; case No.2: 46, XY, dup (5p)]. Several family members of case No. 1 were balanced translocation carriers. Case No. 2 is probably due to de novo duplication. Clinical findings in our cases and those cited in the literature allow identification of certain main features characteristic of "almost complete" trisomy 5p: hypotonia, weak cry, mongoloid slant of eyes, epicanthus, depressed nasal bridge, auricular anomalies, bilateral cryptorchidism and, less frequently, macrocephaly, micrognathia and club feet. SN - 0302-4342 UR - https://www.unboundmedicine.com/medline/citation/4003955/[Trisomy_5p:_a_report_of_2_cases]_ DB - PRIME DP - Unbound Medicine ER -