Abstract

RUEDA-SOTO, Andrea Carolina; GOMEZ-VIRACACHA, Ingrid Mayerly  and  MORA-BARRETO, Lina Maria. 10q23q24 duplication, a chromosome rearrangement associated with multiple congenital anomalies. Medicas UIS [online]. 2022, vol.35, n.3, pp.83-89.  Epub Apr 17, 2023. ISSN 0121-0319.  https://doi.org/10.18273/revmed.v35n3-2022009.

Duplication on the long arm of chromosome 10 (10q) is a rare chromosomopathy characterized clinically by delayed prenatal and postnatal growth associated with hypotonia, delayed development, and specific facial findings, which represents a diagnostic challenge in the clinical setting. We present the case of a newborn referred for multidisciplinary evaluation at the Hospital Universitario San Ignacio in Bogotá, Colombia; in whom cleft lip and palate, hypertelorism, low-set auricle and hypertrophy of the labia minora were documented at birth. Magnetic resonance imaging of the brain was performed, which reported small connatal cysts adjacent to the frontal horns of the lateral ventricles, without pathological significance, apparent malrotation of both hippocampi, hypertelorism, and bilateral cheilopalatoschisis. The G-band karyotype report confirmed chromosomal complement 46, XX, dup (10) (q23q24); being the first reported case in Colombia.

Keywords : 10q23q24 duplication; Chromosome 10; Congenital anomalies; Craniofacial anomalies; Duplication of a chromosome; Cleft palate.

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