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["De novo" partial trisomy 16p (author's transl)].
An Esp Pediatr. 1981 Dec; 15(6):587-91.AE

Abstract

An additional small G-like chromosome was found in a six-months old male with multiple congenital anomalies and marked mental retardation. GTG banding revealed that the index patient was trisomic 16 q1100 leads to pter. In the bibliographical review a few cases of partial trisomy of chromosome 16 have been reported so far, but only two of them affect the same chromosomic region of our case, and only one of them is "de novo", like ours: this one would be the first case in the spanish bibliography, according to our knowledge. The clinical findings in our patient are similar to the other two cases published: our purpose is to contribute with a new case to delimitate what seems to be a definite phenotypical outline associated with trisomy 16p. The two patients early reported were females, the propositus is the first case of trisomy 16p reported in a male liveborn with genital anomalies.

Authors

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Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

spa

PubMed ID

7337311

Citation

Gabarrón Llamas, J, et al. "["De Novo" Partial Trisomy 16p (author's Transl)]." Anales Espanoles De Pediatria, vol. 15, no. 6, 1981, pp. 587-91.
Gabarrón Llamas J, Cabrerizo Portero D, Montserrat Bernal F, et al. ["De novo" partial trisomy 16p (author's transl)]. An Esp Pediatr. 1981;15(6):587-91.
Gabarrón Llamas, J., Cabrerizo Portero, D., Montserrat Bernal, F., Rodríguez Costa, T., Cabrerizo Merino, C., & Rodríguez López, F. (1981). ["De novo" partial trisomy 16p (author's transl)]. Anales Espanoles De Pediatria, 15(6), 587-91.
Gabarrón Llamas J, et al. ["De Novo" Partial Trisomy 16p (author's Transl)]. An Esp Pediatr. 1981;15(6):587-91. PubMed PMID: 7337311.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - ["De novo" partial trisomy 16p (author's transl)]. AU - Gabarrón Llamas,J, AU - Cabrerizo Portero,D, AU - Montserrat Bernal,F, AU - Rodríguez Costa,T, AU - Cabrerizo Merino,C, AU - Rodríguez López,F, PY - 1981/12/1/pubmed PY - 1981/12/1/medline PY - 1981/12/1/entrez SP - 587 EP - 91 JF - Anales espanoles de pediatria JO - An Esp Pediatr VL - 15 IS - 6 N2 - An additional small G-like chromosome was found in a six-months old male with multiple congenital anomalies and marked mental retardation. GTG banding revealed that the index patient was trisomic 16 q1100 leads to pter. In the bibliographical review a few cases of partial trisomy of chromosome 16 have been reported so far, but only two of them affect the same chromosomic region of our case, and only one of them is "de novo", like ours: this one would be the first case in the spanish bibliography, according to our knowledge. The clinical findings in our patient are similar to the other two cases published: our purpose is to contribute with a new case to delimitate what seems to be a definite phenotypical outline associated with trisomy 16p. The two patients early reported were females, the propositus is the first case of trisomy 16p reported in a male liveborn with genital anomalies. SN - 0302-4342 UR - https://www.unboundmedicine.com/medline/citation/7337311/["De_novo"_partial_trisomy_16p__author's_transl_]_ DB - PRIME DP - Unbound Medicine ER -