¿Qué puede esconder el retraso global del desarrollo? A propósito de un caso de causa genética / What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic Cause

Se presenta un niño de 6 años con antecedente de retraso del lenguaje que llevó a sus padres a realizar múltiples consultas. En un primer momento, su cuadro fue interpretado como parte de un retraso global del desarrollo. Posteriormente, el paciente presentó convulsiones y episodios de descompensación metabólica, comenzando desde entonces su seguimiento por los Servicios de neurología, genética y metabolismo. Finalmente, tras varios estudios complementarios, por medio de un exoma trío se arribó al diagnóstico de síndrome de microduplicación del cromosoma 7q11.23, lo que justifica tanto el retraso global de desarrollo del paciente como su clínica neurológica. (AU)

A six-year-old boy presents with a history of language delay that led his parents to make multiple consultations. At first, we interpreted his condition as part of a global developmental delay. Subsequently, the patient presented seizures and episodes of metabolic decompensation, and since then, he had to be followed up by neurology, genetics, and metabolism services. Finally, after several complementary studies, following a trio exome analysis, we diagnosed chromosome 7q11.23 microduplication syndrome, which explains his global developmental delay and neurological symptoms. (AU)

Síndrome de duplicación 7q11. 23: Primer caso descrito en América Latina / Chromosome 7q11. 23 duplication syndrome: First reported case in Latin America

El síndrome de duplicación 7q11.23 es una patología causada por la duplicación de una región del cromosoma 7 que comprende 26 genes. El primer caso descrito en la literatura fue reportado por Somerville et al., en el año 2005, quienes describieron un paciente con dolicocefalia, frente alta y estrecha, pestanas largas, nariz alta y ancha, filtrum corto, paladar ojival, maloclusión dental, retrognatia y retardo grave en el lenguaje. Presentamos una paciente colombiana con hallazgo de duplicación 7q11.23 mediante técnicas de hibridación genómica comparativa y hallazgos clínicos clásicos. Este es el primer caso comunicado en Colombia y en América Latina.

7q11.23 duplication syndrome is a disease caused by duplication of a region of chromosome 7 comprising 26 genes. The first case described in the literature was reported by Somerville et al. in 2005, who described a patient with dolichocephaly, high and narrow forehead, long eyelashes, high and wide nose, short philtrum, high arched palate, dental malocclusion, retrognathia, and severe language delay. We report the case of a Colombian patient with 7q11.23 duplication by comparative genomic hybridization techniques, and classical clinical findings, this being the first reported case in Colombia and Latin America.

Chromosome 7q Deletion Syndrome 46, XX, del(7)(q34) with Hydronephrosis

Chromosome 7q deletion, relatively rare syndrome, was first described by de Grouchy in 1969. The most frequent clinical manifestations of a "7q deletion syndrome" include; low birth weight, postnatal growth retardation, mental retardation, developmental delay, microcephaly, congenital heart disease, hypotonia, bulbous nasal tip and abnormal ears. We report a case of 7q deletion syndrome with microcephaly, upslanting palpabral fissure, micrognathia, bulbous nasal tip, developmental delay and hydronephrosis.

A Case of Partial Inverted Duplication of Chromosome 7q

Duplication of chromosome 7q has been reported as either partial or complete. Partial 7q duplication was first described by Carpentier in 1972. Pure partial duplication of the long arm of chromosome 7 is extremely rare and only 16 cases with a pure partial duplication of different 7q segment have been described in the literature. Pure partial duplication of the long arm of chromosome 7 is characterized by growth and developmental retardation, muscular hypotonia, distinct craniofacial dysmorphic features, a short neck and skeletal abnormalities. A 3 month-old male was referred to our department of Pediatrics because of dyspnea, hypotonia and delayed development. He shows growth and developmental delay, hypertelorism, a depressed nasal bridge, low set ears, a short neck and muscular hypotonia. Karyotype revealed 46, XY, dup(7)(q36q33) by GTC-banding. We report a case of a partial inverted duplication of chromosome 7q.

A Case of Multicystic Renal Dysplasia with Chromosomal Abnormality / 대한주산의학회잡지

Holoprosencephaly is a rare and complex malformation affecting the cleavage of the developing forebrain and is usually associated with defects of the mid Face. We have experienced a case of holoprosencephaly, diagnosed prenatally by ultrasound examination at 31 weeks of pregnancy in a 31-year-old primigravida woman. This case is characterized by holoprosencephaly, cleft palate, cleft lip, left renal aplasia and right renal hypertrophy. The chromosomal study showed a deletion of the long arm of chromosome 7, 46, XX, del(7)(q32), We report with a terminal deletion of chromosome 7q associated with atypical clinical picture and holoprosencephaly.

A Case of Holoprosencephaly Associated with Chromosomal Deletion Diagnosed by Prenatal Ultreasound / 대한주산의학회잡지

Holoprosencephaly is a rare and complex malformation affecting the cleavage of the developing forebrain and is usually associated with defects of the mid Face. We have experienced a case of holoprosencephaly, diagnosed prenatally by ultrasound examination at 31 weeks of pregnancy in a 31-year-old primigravida woman. This case is characterized by holoprosencephaly, cleft palate, cleft lip, left renal aplasia and right renal hypertrophy. The chromosomal study showed a deletion of the long arm of chromosome 7, 46, XX, del(7)(q32), We report with a terminal deletion of chromosome 7q associated with atypical clinical picture and holoprosencephaly.