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Prenatal Microcephaly and Hydrocephalus and Normal Heart Anatomy, Postnatal Diagnosis of Nijmegen Syndrome - Case Report

families by polymerase chain reaction using sequence-specific primers. Genet Test. 2006 Spring;10(1):24-30. 6. Fenton TR, Kim JH. A systematic review and metaanalysis to revise the Fenton growth chart for preterm infants. BMC Pediatr. 2013 Apr 20;13:59. doi: 10.1186/1471-2431-13-59. 7. Leibovitz Z, Daniel-Spiegel E, Malinger G, Haratz K, Tamarkin M, Gindes L, Schreiber L, Ben- Sira L, Lev D, Shapiro I, Bakry H, Weizman B, Zreik A, Egenburg S, Arad A, Tepper R, Kidron D, Lerman-Sagie T. Prediction of microcephaly at birth using three

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Zika: an old virus with a new face

). Shortly after ZIKV emerged in Brazil, frequent reports of microcephaly, foetal brain malformations and other neurological disorder coincided with ZIKV infections ( 4 ). Thus, on 1 February 2016, the World Health Organization (WHO) declared that the clusters of cases of microcephaly and neurological disorders occurring in areas with Zika virus transmission represent a public health emergency of international concern ( 5 ). 2 Transmission Zika virus is primarily transmitted to people through the bite of an infected mosquito from the Aedes genus, mainly Aedes

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T-lymphoblastic leukemia/lymphoma in macedonian patients with Nijmegen breakage syndrome

Introduction Nijmegen breakage syndrome (NBS) is a relatively rare chromosomal instability disorder with an estimated incidence of less than 1:100,000 live births [ 1 , 2 ]. The disease seems to be more prevalent among Central and Eastern European populations, with Polish patients constituting approximately half of all registered NBS patients worldwide. Nijmegen breakage syndrome is clinically characterized by microcephaly, typical facial appearance, growth and mental retardation, immunodeficiency and a high predisposition to lymphoid malignancies, in

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A Rare Chromosomal Disorder – 14q Interstitial Deletion Syndrome

, Agenesis of the Corpus Callosum, and Septo-Optic Dysplasia. AJNR Am J Neuroradiol. 2012;33(2):E16-18. doi: 10.3174/ajnr.A2745 15. Papa FT, Mencarelli MA, Caselli R, et al. A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. Am J Med Genet A. 2008;146A(15):1994-1998. doi: 10.1002/ajmg.a.32413. 16. Su PH, Chen SJ, Lee IC, et al. Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly. J Formos Med Assoc. 2004;103(5):385-387. 17. Schuffenhauer S, Leifheit HJ, Lichtner P, Peters

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Genetic Disorders Affecting Tubulin Cytoskeleton

the basal ganglia and cerebellum. Am J Hum Genet. 2013;92(5):767-73. 12. Yuba-Kubo A, Kubo A, Hata M, Tsukita S. Gene knockout analysis of two gamma-tubulin isoforms in mice. Dev Biol. 2005;282(2):361-73. 13. Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C et al. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. 2013;45(6):639-47. 14. Brandt R. The tau proteins in neuronal growth and development. Front Biosci. 1996;1:d118-30. 15. Lei P, Ayton S, Moon S, Zhang Q

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Ring Chromosome 22: A Review of the Literature and First Report from India

Ring Chromosome 22: A Review of the Literature and First Report from India

Ring chromosome 22 [r(22)], a rare cytogenetic finding, has been described in nearly 70 cases to date. Cytogenetic investigations were carried out on a 5-year-old male child with microcephaly and intellectual disability. Cytogenetic investigations revealed his karyotype to be 46, XY, r(22). To the best of our knowledge, this is the first report of an r(22) anomaly from India.

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Wolf-Hirschhorn Syndrome: Report of two Cases in Bosnia and Herzegovina

Wolf-Hirschhorn Syndrome: Report of two Cases in Bosnia and Herzegovina

Wolf-Hirschhorn syndrome (WHS) is a rare developmental disorder caused by a partial deletion of the short arm of chromosome 4 (4p-). The main phenotypic characteristics of WHS are: intrauterine growth retardation, mental retardation, typical facial dysmorphism, microcephaly and midline fusion defects (cleft lip or palate, cardiac septal defects). Other abnormalities, such as agenesis of the corpus callosum, dysplastic kidneys, iris coloboma and skeletal abnormalities have occasionally been described.

We describe two female newborn babies with a 4p deletion, who have a majority of the main phenotypic features of WHS. Prenatal diagnosis of the syndrome is very important, because dysmorphologic features are associated with profound mental retardation. Postnatal recognition of the syndrome requires genetic counseling of the parents and supportive multidisciplinary treatment.

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16P Subtelomeric Duplication With Vascular Anomalies: An Albanian Case Report And Literature Review

ABSTRACT

A patient with karyotype 46,XY,der(4) was recognized by standard cytogenetic techniques, and presented with facial features, neurological impairment and pulmonary hypertension. Multiplex ligation-dependent probe amplification (MLPA) demonstrated duplication of the subtelomeric region of chromosome 16p and deletion of the subtelomeric region of chromosome 4q, suggesting a translocation between 4q and 16p. The karyotype of his parents was normal and their MLPA analysis also indicated a de novo imbalance. He had microcephaly, high frontal hairline, thin blond hair, bilateral blepharophimosis and palpebral ptosis, short nose, everted upper lip, cleft palate, micrognathia, cupped anteverted ears, hypoplastic distal phalanges and bilateral inguinal hernia. He also had pulmonary hypertension with tricuspidal regurgitation; cavernous liver hemangioma anomalies have been previously described in association with dup16p. We concluded that pulmonary and other vascular anomalies can be a feature of dup16p. We believe this is the first confirmed case of a 16p subtelomeric duplication with vascular anomalies identified in Albania.

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Report of a New Case With Pentasomy X and Novel Clinical Findings

Abstract

Pentasomy X is an extremely rare sex chromosome abnormality, a condition that only affects females, in which three more X chromosomes are added to the normally present two chromosomes in females. We investigated the novel clinical findings in a 1-year-old female baby with pentasomy X, and determined the parental origins of the X chromosomes. Our case had thenar atrophy, postnatal growth deficiency, developmental delay, mongoloid slant, microcephaly, ear anomalies, micrognathia and congenital heart disease. A conventional cytogenetic technique was applied for the diagnosis of the polysomy X, and quantitative fluorescent polymerase chain reaction (QF-PCR) using 11 inherited short tandem repeat (STR) alleles specific to the chromosome X for the determination of parental origin of X chromosomes. A cytogenetic evaluation revealed that the karyotype of the infant was 49,XXXXX. Comparison of the infant’s features with previously reported cases indicated a clinically recognizable specific pattern of malformations referred to as the pentasomy X syndrome. However, to the best of our know-ledge, this is the first report of thenar atrophy in a patient with 49,XXXXX. The molecular analysis suggested that four X chromosomes of the infant originated from the mother as a result of the non disjunction events in meiosis I and meiosis II. We here state that the clinical manifestations seen in our case were consistent with those described previously in patients with pentasomy X. The degree of early hypotonia constitutes an important early prognostic feature in this syndrome. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non disjunctions.

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Emanuel Syndrome (Es): New Case-Report and Review of the Literature/ Емануел Синдром (Es): Презентација На Нов Случај И Преглед На Литературата

Abstract

Multiple congenital anomalies and craniofacial dysmorphism are characterizing the so-called Emanuel or supernumerary der(22)t(11;22) syndrome (OMIM609029). Mental and developmental retardation are major clinical features. The der(22) may arise from a parental balanced t(11;22)(q23;q11.2) or can be created de novo.

Here we present a 2 years old boy with normal prenatal history, cyanotic at delivery and with ear anomalies, a preauricular tag, high-arched palate and micrognathia. There were neither microcephaly, nor heart or kidney defects. Psychological and motor testing at the age of 2 years confirmed significant mental and developmental delay. In addition, the child had seizures and an abnormal electroencephalogram. Cytogenetic and molecular analyses revealed a karyotype 47,XY,+der(22)t(11;22)(q23;q11.2). As parents refused further tests it could not be determined if the der(22) arose de novo or was parentally derived.

Overall the present report should alert physician to offer cytogenetic and/or molecular diagnostics in comparable cases.

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