A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turricephaly; tall and broad forehead; hypertelorism; deep-set eyes; down slanting and short palpebral fissures; epicanthic folds; prominent nose with wide root and bulbous tip; microstomia; micro-retrognathia, large, short philtrum with prominent reliefs; low set, prominent ears; and congenital heart disease. The GTG banding karyotype showed a 46,XY,der(10)(10pter→10q26.2::4q26→4qter) chromosomal formula and his mother presented an apparently balanced reciprocal translocation: 46,XX,t(4;10)(q26;q26.2). The chromosomal anomalies of the child were confirmed by MLPA, and supplementary investigation discovered a quadruplication of the 4q35.2 region. The mother has a triplication of the same chromosomal fragment (4q35.2). Using array-CGH, we described the anomalies completely. Thus, the boy has a 71,057 kb triplication of the 4q26–q35.2 region, a 562 kb microdeletion in the 10q26.3 region, and a 795 kb quadruplication of the 4q35.2 region, while the mother presents a 795 kb triplication of the 4q35.2 region. Analyzing these data, we consider that the boy’s phenotype is influenced only by the 4q partial trisomy. We compare our case with similar cases, and we review the literature data.

Il neonato con gli occhi socchiusi. La displasia ectodermica legata al gene TP63

An Italian female newborn presented with cleft palate, erythroderma, desquamations, skin erosions, ankyloblepharon filiforme adnatum, broad nasal root, short philtrum, thin vermillion border, maxillary hypoplasia, microstomia, microglossia, cupped ears, hypoplasia of the distal phalange of left index, widely spaced nipples and polythelia. The hallmarks of ankyloblepharon-ectodermal dysplasia-clefting syndrome (or Hay-Wells syndrome) as well as persistent scalp erosions led to exclude more frequent skin disorders like congenital ichthyosiform erythroderma or epidermolysis bullosa and to diagnose Hay-Wells syndrome by genetic analysis. Target sequencing of the tumour protein p63 (TP63) gene revealed a novel heterozygous missense mutation I576T in exon 13 (c. 1727T>C) in the sterile alpha motive domain. The paper reports the clinical features, differential diagnoses and prognosis in TP63-related ectodermal dysplasia.

Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient

Pitt Hopkins syndrome (PTHS) is a very rare condition and until now, approximately 500 patients were reported worldwide, of which not all are genetically confirmed. Usually, individuals with variants affecting exons 1 to 5 in the TCF4 gene associate mild intellectual disability (ID), between exons 5 to 8, moderate to severe ID and sometimes have some of the characteristics of PTHS, and variants starting from exon 9 to exon 20 associate a typical PTHS phenotype. In this report, we describe the clinical and molecular findings of a Caucasian boy diagnosed with PTHS. PTHS phenotype is described including craniofacial dysmorphism with brachycephaly, biparietal narrowing, wide nasal bridge, thin and linear lateral eyebrows, palpebral edema, full cheeks, short philtrum, wide mouth with prominent and everted lips, prominent Cupid’s bow, downturned corners of the mouth, microdontia and also the clinical management of the patient. The previously and the current diagnosis scores are described in this report and also the challenges and their benefits for an accurate and early diagnosis.

Greek Warrior Helmet Facies (Wolf-hirschhorn Syndrome)

Wolf-Hirschhorn syndrome (WHS) is caused by a chromosomal deletion of the band 4p16.3 with characteristic craniofacial features -’Greek warrior helmet’5 facies (prominent glabella, hypertelorism, broad beaked nose and frontal bossing), high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, micrognathia, dysplastic ears, preauricular tags. Till date there are very few case reports of Wolf-Hirschhorn syndrome.Here we report a case that had characteristic dysmorphic facies (Figure 1) ‘Greek warrior helmet’ and was diagnosed as a case of WHS. But presence of Meningo-encephalocele and lissencephaly is rarely reported in literature in association with Wolf-hirschhorn syndrome till date. J Nepal Paediatr Soc 2014;34(3):239-243 DOI: http://dx.doi.org/10.3126/jnps.v34i3.10289