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ICF syndrome: a new case and review of the literature
Patients with ICF syndrome can be recognized by the presence of a variable immunodeficiency, instability of the pericentromeric heterochromatin of, in particular, chromosomes 1, 9, and 16 in culturedExpand
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Trisomy 17p due to a t(8; 17) (p23; p11.2)pat translocation. Case report and review of the literature
We describe a female newborn girl with partial trisomy 17p, which was not detected at the initial cytogenetic investigation, but which later proved to be an unbalanced product of a paternalExpand
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Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21))
In this report we describe a 6‐year‐old boy with Sotos syndrome and a de novo apparently balanced 3/6 translocation (karyotype: 46,XY,t(3;6)(p21;p21)). Pre‐ and postnatal overgrowth are observed inExpand
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The partial monosomy 10q syndrome: report on two patients and review of the developmental data.
Two patients, a boy and a girl, with growth delay, mental retardation and mild dysmorphism due to a de novo terminal 10q deletion are described. A recognizable facial appearance with a prominent noseExpand
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Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes
We report on monozygotic (MZ) twins with a de novo mos 46,XX,der(15)t(11;15)(p12;p11.2)/46,XX karyotype varying in different tissues. The clinical presentation and findings at the cytogenetic levelExpand
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Caudal deficiency sequence in 7q terminal deletion.
We describe a male infant with signs of caudal deficiency sequence. In addition, he showed growth retardation, microcephaly, prominent forehead, bulbous nose tip, large dysplastic ears, hypospadia,Expand
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Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis
BackgroundSmall supernumerary marker chromosomes (sSMC) are extra structurally abnormal chromosomes that cannot be unambiguously identified with conventional chromosome banding techniques. TheseExpand
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