caa a22 4500 467983275 CHVBK 20180323112524.0 cr unu---uuuuu 170328e19900501xx s 000 0 eng 10.1007/BF00210813 doi (NATIONALLICENCE)springer-10.1007/BF00210813 Partial trisomy of the distal segment of 14q [Elektronische Daten] [Yasuhiro Nakamura, Kyoko Sakai, Satomi Sakuma, Etsuko Sato, Masato Maruyama, Takeo Hashimoto, Seiichi Fukuda, Yasuhiro Nishimi, Yasuo Nakagome, Yutaka Nakahori, Masao Yamada] Summary: The case of a male infant with duplication of the distal segment of chromosome 14q is described. There was an extra chromosomal segment at the distal end of the long arm of chromosome 17. Banding techniques suggested that the extra segment might be the distal segment of chromosome 14q. DNA analysis using probes from distal 14q as well as from other parts of the genome confirmed that the extra segment consisted of the distal part of 14q. Both the proband's parents and his elder sister had normal karyotypes. Springer-Verlag, 1990 Nakamura Yasuhiro Department of Medical Technology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut Sakai Kyoko Department of Medical Technology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut Sakuma Satomi Department of Medical Technology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut Sato Etsuko Department of Medical Technology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut Maruyama Masato Department of Medical Technology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut Hashimoto Takeo Department of Neonatology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut Fukuda Seiichi Department of Neonatology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut Nishimi Yasuhiro Department of Neonatology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut Nakagome Yasuo Department of Congenital Abnormalities Research, National Children's Medical Research Center, Tokyo, Japan aut Nakahori Yutaka Department of Congenital Abnormalities Research, National Children's Medical Research Center, Tokyo, Japan aut Yamada Masao Department of Congenital Abnormalities Research, National Children's Medical Research Center, Tokyo, Japan aut Human Genetics Springer-Verlag 84/6(1990-05-01), 574-576 0340-6717 84:6<574 1990 84 439 https://doi.org/10.1007/BF00210813 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00210813 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Nakamura Yasuhiro Department of Medical Technology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut NATIONALLICENCE 700 1- Sakai Kyoko Department of Medical Technology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut NATIONALLICENCE 700 1- Sakuma Satomi Department of Medical Technology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut NATIONALLICENCE 700 1- Sato Etsuko Department of Medical Technology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut NATIONALLICENCE 700 1- Maruyama Masato Department of Medical Technology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut NATIONALLICENCE 700 1- Hashimoto Takeo Department of Neonatology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut NATIONALLICENCE 700 1- Fukuda Seiichi Department of Neonatology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut NATIONALLICENCE 700 1- Nishimi Yasuhiro Department of Neonatology, St. Mary's Hospital, 422, Tsubukuhon-machi, 830, Kurume-shi, Japan aut NATIONALLICENCE 700 1- Nakagome Yasuo Department of Congenital Abnormalities Research, National Children's Medical Research Center, Tokyo, Japan aut NATIONALLICENCE 700 1- Nakahori Yutaka Department of Congenital Abnormalities Research, National Children's Medical Research Center, Tokyo, Japan aut NATIONALLICENCE 700 1- Yamada Masao Department of Congenital Abnormalities Research, National Children's Medical Research Center, Tokyo, Japan aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/6(1990-05-01), 574-576 0340-6717 84:6<574 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer