Avtor/Urednik		Bregant, L; Geršak, K; Veble, A
Naslov		Distal trisomy 10q / partial monosomy 14q: an unusual clinical picture
Tip		članek
Vir		Genet Couns
Vol. in št.		Letnik 16, št. 1
Leto izdaje		2005
Obseg		str. 59-63
Jezik		eng
Abstrakt		Distal trisomy 10q/Partial monosomy 14g: an unusual clinical picture: A case of twin boy with partial trisomy for the distal part of the long arm of chromosome 10 (10q24-qter) and a concomitant monosomy 14(q32-qter) is reported. The chromosomal abnormalities resulted from a paternal balanced translocation involving chromosomes 10 and 14. An additional clinical feature was observed, viz. hypoplastic lungs. The proband's phenotype was compared to previously reported patients with partial trisomy 10q or 14q deletion.
Deskriptorji		TRISOMY MONOSOMY CHROMOSOMES, HUMAN, PAIR 10 CHROMOSOMES, HUMAN, PAIR 14 CHROMOSOME DELETION INFANT, NEWBORN TWINS PHENOTYPE KARYOTYPING IN SITU HYBRIDIZATION, FLUORESCENCE CYTOGENETICS