16p11.2 Duplication Syndrome - a Case Report

16p11.2 duplication syndrome is a rare disorder, often associated with intellectual disability, attention deficit, hyperactivity disorder, and a predisposition to epilepsy and schizophrenia. There are no specific dysmorphic features for this genetic condition, but micro-cephaly, micrognathia and hypertelorism could be present. We report a case of 16p11.2 duplication syndrome which has the typical clinical presentation – slight facial dysmorphism, impaired intellectual development, and autistic behavior. Whole-exome sequencing was performed, but no pathogenic or likely pathogenic mutations were identified. Array comparative genomic hybridization analysis established the diagnosis of 16p11.2 duplication syndrome, which illustrates the importance of this method when diagnosing children with unexplained intellectual disability. 

Esophageal Atresia and Thenar Hypoplasia Associated with Asymmetric Crying Face

Asymmetric crying face (ACF) is a minor congenital anomaly that is often associated with a high rate of major malformations and may be considered an indication of a syndromic clinical presentation. Here, we report a 21-month-old male presenting with left- sided ACF, thenar hypoplasia, and esophageal atresia. Ultrasonographic images of the volar surface of the left hand evidenced the absence of muscle tissue around the thenar prominence at the level of the first metacarpal bone. No pathogenic copy number variation was detected on array-comparative genomic hybridization analysis (CGH). The association of esophageal atresia, thenar hypoplasia, and ACF has not been reported before. We discuss the possibility of a distinct association or of a sequence of anomalies associated with ACF.

Case Report: a novel chromosomal insertion, 46, XY, inv ins(18;2)(q11.2;q13q22), in a patient with infertility and mild intellectual disability

Infertility is an important health problem affecting 15% of couples worldwide. Intellectual disability (ID) is characterized with significant impairment of intellectual function, adaptive daily life skills and social skills. Insertion is a rare chromosomal rearrangement causing infertility and ID. Here, we report a 39-year-old man presenting with primary infertility and mild ID. The patient’s spermiogram was consistent with azoospermia. Conventional cytogenetic analysis showed a novel inversion/insertion type of chromosomal aberration involving chromosomes 18 and 2: 46, XY, inv ins(18;2)(q11.2;q13q22). We carried out the array comparative genomic hybridization analysis to confirm the cytogenetic findings. Y micro-deletion analysis demonstrated that the AZF region as intact. We suggest that the novel insertion found in this case [46, XY, inv ins(18;2)(q11.2;q13q22)] may have caused infertility and mild ID in our patient. To the best of our knowledge, this chromosomal insertion has not previously been reported.