Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype

Genesio, Rita; Brasi, Daniele De; Conti, Anna; Borghese, Annamaria; Micco, Pasqua Di; Costanzo, Pasquale; Paladini, D.; Ungaro, Paola; Nitsch, Lucio

doi:10.1002/ajmg.a.30679

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“…11 Majority of the patients with partial trisomy 15, have breakpoints between regions15q21 and 15q23. [12][13][14] In those with distal trisomy 15q, the duplicated portion of 15q usually begins between bands 15q21 and 15q23 (breakpoint) and extends toward the end or "terminal" portion of chromosome 15q (qter). Rarely, there have been cases with breakpoints at 15q15 and 15q26.…”

Section: Discussionmentioning

confidence: 99%

Partial trisomy 15: a rare occurrence

Gandhi¹,

Malik²,

Subramanian³

et al. 2019

Int J Contemp Pediatr

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Partial trisomy 15q is a very rare entity and most of them are characterized by duplication of regions 15q21-15q26.3. This duplication is frequently associated with deletions in another chromosome resulting in unbalanced translocations. Authors report here, a rare case of partial trisomy 15, with breakpoints between 15q11.1 to q23, probably the first reported case with these breakpoints. Irrespective of the breakpoints, the phenotypic features are consistent in all affected cases and predominantly consist of craniofacial anomalies. In addition, finger abnormalities, very short neck, skeletal malformations and congenital heart disease may be present. Our neonate had typical dysmorphic features of arachnocamptodactyly, narrow face, large prominent, nose with broad nasal bridge, long philtrum, pointed chin, short neck, and low set deformed ears. Neonates’ cytogenetic analysis revealed additional chromosomal material on the long arm of the chromosome 15 from q11.1 to q23.1, which was suggestive of partial trisomy of chromosome 15. Most cases reported have had a stormy clinical course, however, our proband had only mild respiratory distress at birth and she was discharged in a few days.

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Section: Discussionmentioning

confidence: 99%