Terminal tandem duplication of 16p: A case with «pure» partial trisomy (16)(pter→p13)

Genetic Counseling

Volumn 13, Issue 3, 2002, Pages 303-307

  Tschernigg, Michaela ^a   Petek, E ^a   Leonhardtsberger, A ^a   Wagner, K ^a   Kroisel, P M ^a  

^a UNIVERSITY OF GRAZ   (Austria)

Author keywords

Chromosome 16p; De novo; Partial trisomy 16p

Indexed keywords

ARTICLE; CASE REPORT; CAUSE OF DEATH; CHROMOSOME 16P; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME DUPLICATION; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; CLUBFOOT; FLUORESCENCE IN SITU HYBRIDIZATION; HAND MALFORMATION; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; KARYOTYPE 46,XY; MALE; MALFORMATION SYNDROME; RESPIRATORY DISTRESS; TRACHEOMALACIA; TRISOMY 16;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 16; CLEFT LIP; CLEFT PALATE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; TANDEM REPEAT SEQUENCES; TRISOMY;

EID: 0036390558     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

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2. Dallapiccola B., Curatolo B., Balestrazzi P.: «De novo» trisomy 16p11-pter. Hum. Genet., 1979, 49, 1-6.
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7. Schinzel A.: Catalogue of Unbalanced Chromosome Aberrations in Man. New York, Walter de Grutyer.