Duplication of 7q31.2→7qter and deficiency of 18qter: Report of two patients and literature review

We describe two male patients with a 46,XY, − 18, +der(18),t(7;18)(q31.2; q23)mat karyotype. Previously, 22 other patients with dup(7q) have been described, but only four of them had duplication of segment 7q31→ 7qter. The two patients in this study were ascertained independently and lived in differ...

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Veröffentlicht in:	American journal of medical genetics 1986-11, Vol.25 (3), p.477-488
Hauptverfasser:	Johnson, Debra D., Michels, Virginia V., Aas, Martha A., Dewald, Gordon W., Opitz, John M., Reynolds, James F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics apnea Applied sciences Biological and medical sciences Brain - diagnostic imaging Chromosome aberrations Chromosome Aberrations - genetics Chromosome Deletion Chromosome Disorders Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 7 cleft palate Cleft Palate - genetics del(18q) downslanting palpebral fissures dup(7q) Exact sciences and technology Humans hypospadias large fontanelles long eyelashes Male Medical genetics Medical sciences Other techniques and industries Pedigree Sex Differentiation short nose thin and downcurved upper lip Tomography, X-Ray Computed Translocation, Genetic
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