Skip to main content
main-content

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Journal of Medical Case Reports 1/2018

Ring chromosome 15 – cytogenetics and mapping arrays: a case report and review of the literature

Zeitschrift:
Journal of Medical Case Reports > Ausgabe 1/2018
Autoren:
César Paz-y-Miño, Jaime Guevara-Aguirre, Ariane Paz-y-Miño, Francesca Velarde, Isaac Armendáriz-Castillo, Verónica Yumiceba, Jesús María Hernández, Juan Luis García, Paola E. Leone

Abstract

Background

Ring chromosome 15 has been associated in previous studies with different clinical characteristic such as cardiac problems, digit and musculoskeletal abnormalities, and mental and motor problems among others. Only 97 clinical cases of ring chromosome 15 syndrome have been reported since 1966 and a common phenotype for these patients has not been established.

Case presentation

The present case report describes a 15-month-old girl from the Amazon region of Ecuador, of Mestizo ancestry, who after cytogenetic tests showed a 46,XX,r(15) karyotype in more than 70% of metaphases observed. Her parents were healthy and non-related. The pregnancy was complicated and was positive for intrauterine growth retardation. Her birth weight was 1950 g, her length was 43.5 cm, and she had a head circumference of 29.3. In addition to postnatal growth delay, she had scant frontal hair, small eyes, hypertelorism, low-set of ears, flattened nasal bridge, anteverted nostrils, down-turned mouth, three café au lait spots, and delayed dentition.

Conclusions

Despite the frequency of some phenotypes expressed in the different clinical cases reviewed and the present case, a common phenotype for patients with ring 15 could not be determined and it is restricted to the region of the chromosome lost during the ring formation.

Unsere Produktempfehlungen

e.Med Interdisziplinär

Kombi-Abonnement

Mit e.Med Interdisziplinär erhalten Sie Zugang zu allen CME-Fortbildungen und Fachzeitschriften auf SpringerMedizin.de.

e.Med Allgemeinmedizin

Kombi-Abonnement

Mit e.Med Allgemeinmedizin erhalten Sie Zugang zu allen CME-Fortbildungen und Premium-Inhalten der allgemeinmedizinischen Zeitschriften, inklusive einer gedruckten Allgemeinmedizin-Zeitschrift Ihrer Wahl.

Literatur
Über diesen Artikel

Weitere Artikel der Ausgabe 1/2018

Journal of Medical Case Reports 1/2018 Zur Ausgabe