A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5

Abstract

BackgroundRearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) and Trisomy 5p, caused by a deletion and duplication, respectively. The 5p15.2 has been defined as a critical region for CdC syndrome; however, genotype-phenotype studies allowed isolation of particular characteristics such as speech delay, cat-like cry and mental retardation, caused by distinct deletions of 5p. A varied clinical outcome was also observed in patients with Trisomy 5p. Duplications of 5p10-5p13.1 manifest themselves in a more severe phenotype, while trisomy of regions distal to 5p13 mainly causes mild and indistinct features. Combinations of a terminal deletion and inverted duplication of 5p are infrequent in literature. Consequences of these chromosomal rearrangements differ, depending on size of deletion and duplication in particular cases, although authors mainly describe the deletion as the cause of the observed clinical picture.Case presentationHere we present a 5-month-old Slovenian girl, with de novo terminal deletion and inverted duplication of chromosome 5p. Our patient presents features of both CdC and Trisomy 5. The most prominent features observed in our patient are a cat-like cry and severe malformations of the right ear.ConclusionThe cat-like cry, characteristic of CdC syndrome, is noted in our patient despite the fact that the deletion is not fully consistent with previously defined cat-like cry critical region in this syndrome. Features like dolichocephaly, macrocephaly and ear malformations, associated with duplication of the critical region of Trisomy 5p, are also present, although this region has not been rearranged in our case. Therefore, the true meaning of the described chromosomal rearrangements is discussed.

Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion

“…features, and development delays(Krgovic, Blatnik, Burmas, Zagorac, & Kokalj Vokac, 2014;Sreekantaiah, Kronn, Marinescu, Goldin, & Overhauser, 1999;Vera-Carbonell et al, 2009;Wang et al, 2008). These observations supported the mapped critical region for a cat-like cry (Figure 2).…”

5p deletions: Current knowledge and future directions

“…The functions of most genes on 5p are still unknown. Genotype–phenotype studies of large cohorts of individuals with 5p− may define critical regions that are associated with the condition [Church et al, ; Mainardi et al, ; Kondoh et al, ; Wu et al, ; Zhang et al, ; Wang et al, ; Krgovic et al, ]. People with other chromosomal anomalies involving breakpoints in the 5p− critical regions may provide additional insight into gene function by careful observation of their phenotype.…”

The spectrum of microdeletian syndromes at the hospital of Lithuanian university of health sciences

“…Cri du Chat syndrome (CdCS) has a prevalence of 1 in 15000 to 1 in 50000 (AZMAN et al, 2008). The diagnostic age ranges from 3 months to 6 years (DANGARE et al, 2012;KHADER and HUNTLEY, 2013;KRGOVIC et al, 2014). The clinical features contain low weight at birth, microcephaly, distinct facial dysmorphism, abnormal dermatoglyphics, hypotonia, feeding problems, scoliosis, flat foot, pes varus, cardiac and neurological abnormalities, syndactyly and typical high-pitched cat-like cry.…”