WordNet

chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number

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Retinoschisis and hyperopia associated with partial monosomy of 6q and partial trisomy of 11q.

Bagheri N1, Bahl RS, Singh AD, Rychwalski PJ.
Ophthalmic genetics.Ophthalmic Genet.2014 Jun;35(2):107-11. doi: 10.3109/13816810.2013.776088. Epub 2013 Nov 19.
BACKGROUND: Retinoschisis, or retinal lamellar splitting, can occur in a number of hereditary conditions. The most common cause of congenital or childhood onset retinoschisis is the clinical entity known as juvenile retinoschsis, which is caused by mutations in the X-linked retinoschisis 1 gene. Gen
PMID 24251586

Terminal deletion 6q syndrome with 11q partial trisomy mosaicism due to maternal balanced translocation.

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

Conti V1, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R.
Brain : a journal of neurology.Brain.2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20.
Periventricular nodular heterotopia is caused by defective neuronal migration that results in heterotopic neuronal nodules lining the lateral ventricles. Mutations in filamin A (FLNA) or ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) cause periventricular nodular heterotopia,
PMID 24056535

NIMURA Takashi,MIURA Ikuo,KOBAYASHI Yoshimi,YOSHIOKA Tomoko,KUME Masaaki,TAKAHASHI Naoto,HIROKAWA Makoto,MIURA Akira B.,SAWADA Ken-ichi
Journal of clinical and experimental hematopathology 43(2), 53-60, 2003-10-01
… The break points were clustered at 1p13, 6q21, 7p11.2 14q32, 17p11 and 19p13.3, which were the loci of protooncogenes, tumor suppresser genes or immunoglobulin-related genes. …
NAID 130000853042

第6番染色体の挿入, 逆転及び欠損を認めた症例 (Case of insertion, inversion and deletion of chromosome 6)

ABE YOSHIFUSA,TAKAMURA MAYUMI,SAWADA MADOKA,HISANO MASATAKA,TSUJI YUICHIRO,SAIKAWA NORIKO,OKUYAMA TORAYUKI,ODAJIMA YASUHEI,FUJITA KAZUNOBU,CHIKAOKA HIROSHI,IIKURA YOJI
Pediatrics international : official journal of the Japan Pediatric Society 44(5), 530-533, 2002-10-01
NAID 50000661111

佐野光仁,佐古雅子,原田保,阪上雅史,松永亨,中山雅弘
Otology Japan 2(2), 284-290, 1992
… We present the temporal bone histopathological findings in a case of 6q partial monosomy. …
NAID 130001787181