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[Pentasomy X: a clinical case report].
Pediatr Med Chir. 1992 Sep-Oct; 14(5):551-4.PM

Abstract

Cytogenetic investigations gave evidence of pentasomy X in a 3-year-old female with typical facies and psychomotor retardation. The parents and the grandparents showed a normal karyotype. The clinical symptoms of our case were compared with the other authors, we found a low birth weight, short stature, delayed expressive language, multiple abnormalities of craniofacial skeleton and some minor deformities of the arts. The parental origin of the extra set of X chromosome were determined by the restriction fragment length analysis (RFLPs) using the very polymorphic probes M27beta, L1.28 and St14. These data support the hypothesis of a maternal meiotic double non-disjunction.

Authors+Show Affiliations

Divisione di Pediatria, Ospedale Civico di Chivasso, Italia.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ita

PubMed ID

1362611

Citation

Favetta, S, et al. "[Pentasomy X: a Clinical Case Report]." La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, vol. 14, no. 5, 1992, pp. 551-4.
Favetta S, Artino R, Ponzio G, et al. [Pentasomy X: a clinical case report]. Pediatr Med Chir. 1992;14(5):551-4.
Favetta, S., Artino, R., Ponzio, G., & Restagno, G. (1992). [Pentasomy X: a clinical case report]. La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, 14(5), 551-4.
Favetta S, et al. [Pentasomy X: a Clinical Case Report]. Pediatr Med Chir. 1992 Sep-Oct;14(5):551-4. PubMed PMID: 1362611.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Pentasomy X: a clinical case report]. AU - Favetta,S, AU - Artino,R, AU - Ponzio,G, AU - Restagno,G, PY - 1992/9/1/pubmed PY - 1992/9/1/medline PY - 1992/9/1/entrez SP - 551 EP - 4 JF - La Pediatria medica e chirurgica : Medical and surgical pediatrics JO - Pediatr Med Chir VL - 14 IS - 5 N2 - Cytogenetic investigations gave evidence of pentasomy X in a 3-year-old female with typical facies and psychomotor retardation. The parents and the grandparents showed a normal karyotype. The clinical symptoms of our case were compared with the other authors, we found a low birth weight, short stature, delayed expressive language, multiple abnormalities of craniofacial skeleton and some minor deformities of the arts. The parental origin of the extra set of X chromosome were determined by the restriction fragment length analysis (RFLPs) using the very polymorphic probes M27beta, L1.28 and St14. These data support the hypothesis of a maternal meiotic double non-disjunction. SN - 0391-5387 UR - https://www.unboundmedicine.com/medline/citation/1362611/[Pentasomy_X:_a_clinical_case_report]_ DB - PRIME DP - Unbound Medicine ER -