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Wolf–Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. The clinical aspects are dependent on the deletion’ size. Our aim was to identify rare specific characteristics in a cohort of seven cases with 4p deletion and to assess the utility of Multiplex ligation-dependent probe amplification (MLPA) (cheap and sensitive test)—combined kits—as a diagnostic test and selection tool for cases that require other investigations (chromosomal microarray analysis—CMA, karyotype). For all cases we conducted a clinical examination with the main features identified: facial dysmorphism, intellectual disability, postnatal development delay, cardiac defects and hypotonia. In some cases, we observed seizures, structural brain abnormalities, immunodeficiencies, and renal anomalies. Prenatal growth retardation was detected in a relatively small number of cases, but postnatal growth failure was a constant feature. In all cases, the clinical diagnosis was confirmed by genetic analyses: karyotype and/or MLPA. In conclusion, renal and brain defects, as well as immunodeficiency are rare manifestations and should be looked for. Although CMA is the standard test, in our experience, MLPA is also a reliable screening method as the identified cases were either confirmed by MLPA or selected for further investigations.
Eva-Cristiana Gavril; Alina Costina Luca; Alexandrina-Stefania Curpan; Roxana Popescu; Irina Resmerita; Monica Cristina Panzaru; Lacramioara Ionela Butnariu; Eusebiu Vlad Gorduza; Mihaela Gramescu; Cristina Rusu. Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review. Children 2021, 8, 751 .
AMA StyleEva-Cristiana Gavril, Alina Costina Luca, Alexandrina-Stefania Curpan, Roxana Popescu, Irina Resmerita, Monica Cristina Panzaru, Lacramioara Ionela Butnariu, Eusebiu Vlad Gorduza, Mihaela Gramescu, Cristina Rusu. Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review. Children. 2021; 8 (9):751.
Chicago/Turabian StyleEva-Cristiana Gavril; Alina Costina Luca; Alexandrina-Stefania Curpan; Roxana Popescu; Irina Resmerita; Monica Cristina Panzaru; Lacramioara Ionela Butnariu; Eusebiu Vlad Gorduza; Mihaela Gramescu; Cristina Rusu. 2021. "Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review." Children 8, no. 9: 751.
Pallister–Killian syndrome (PKS) is a rare, sporadic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, intellectual disability, hypotonia, and seizures caused by 12p tetrasomy due to an extra isochromosome 12p. We present three cases of PKS and two cases of trisomy 12p to illustrate and discuss features rarely cited in the literature, present certain particularities that not yet been cited, and analyze the differences between entities. Moreover, we present alternative methods of diagnosis that could be easily used in daily practice. Features not yet or rarely reported in PKS literature include marked excess of hair on the forehead and ears in the first months of life, a particular eye disorder (abnormal iris color with pointed pupil), connective tissue defects, repeated episodes of infection and autonomic dysfunction, endocrine malfunction as a possible cause of postnatal growth deficit, more complex sensory impairments, and mild early myoclonic jerks. After performing different combinations of tests, we conclude that MLPA (follow-up kit P230-B1) or array CGH using DNA extracted from a buccal swab is a reliable method of diagnosis in PKS and we recommend either one as a first intention diagnostic test. In cases without major defects associated (suspicion trisomy 12p), subtelomeric MLPA should be performed first.
Aurora Arghir; Roxana Popescu; Irina Resmerita; Magdalena Budisteanu; Lacramioara Butnariu; Eusebiu Gorduza; Mihaela Gramescu; Monica Panzaru; Sorina Papuc; Adriana Sireteanu; Andreea Tutulan-Cunita; Cristina Rusu. Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review. Genes 2021, 12, 811 .
AMA StyleAurora Arghir, Roxana Popescu, Irina Resmerita, Magdalena Budisteanu, Lacramioara Butnariu, Eusebiu Gorduza, Mihaela Gramescu, Monica Panzaru, Sorina Papuc, Adriana Sireteanu, Andreea Tutulan-Cunita, Cristina Rusu. Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review. Genes. 2021; 12 (6):811.
Chicago/Turabian StyleAurora Arghir; Roxana Popescu; Irina Resmerita; Magdalena Budisteanu; Lacramioara Butnariu; Eusebiu Gorduza; Mihaela Gramescu; Monica Panzaru; Sorina Papuc; Adriana Sireteanu; Andreea Tutulan-Cunita; Cristina Rusu. 2021. "Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review." Genes 12, no. 6: 811.