Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features

We report a case of an unbalanced cryptic telomeric translocation 46,XY,der(17),t(9;17)(q34.3;p13.3) in a boy with dysmorphic features and developmental delay. The proband had intrauterine growth retardation, postnatal short stature, and mild microcephaly. Magnetic resonance imaging showed incomplet...

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Veröffentlicht in:	Journal of medical genetics 1995-10, Vol.32 (10), p.819-822
Hauptverfasser:	Estop, A M, Mowery-Rushton, P A, Cieply, K M, Kochmar, S J, Sherer, C R, Clemens, M, Surti, U, McPherson, E
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Biological and medical sciences Brief Papers Child, Preschool Chromosome aberrations Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 9 Evoked Potentials, Auditory, Brain Stem Face - abnormalities Female Hearing Disorders - genetics Humans Male Medical genetics Medical sciences Pedigree Skull - abnormalities Translocation, Genetic
Online-Zugang:	Volltext
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