WordNet

chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell

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Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings.

Cakmak-Genc G1, Karakas-Celik S2, Dursun A2, Piskin İE3.
Gene.Gene.2015 Sep 1;568(2):211-4. doi: 10.1016/j.gene.2015.05.022. Epub 2015 May 13.
We report a new-born girl with partial trisomy of 4q28-qter and partial monosomy of 9p24-9ter. Our patient has choanal atresia, hypertelorism, wide nasal bridge, high arched palate, discrete nipples, heart defects, myoclonic seizures and various dysmorphic findings. Standard chromosomal analysis wit
PMID 25979671

A very rare case of trisomy 4q32.3-4q35.2 and trisomy 21q11.2-21q22.11 in a patient with recombinant chromosomes 4 and 21.

Chen LS1, Xue D1, Xi ZM2, Liu DN1, Zou PS1, Ma M1, Xia Y1, Chen XH1, Qiu GB3, Cao DH4.
Gene.Gene.2015 May 25;563(1):72-5. doi: 10.1016/j.gene.2015.03.006. Epub 2015 Mar 6.
We report the case of a patient with a clinical phenotype consistent with Down Syndrome (DS) who has a novel karyotypic abnormality. Karyotypic analyses were performed to investigate the cause of two spontaneous abortions. A balanced translocation between chromosomes 4 and 21 was identified, along w
PMID 25752286

[Possible responsibility of EDNRA gene triplication, coding for the endothelin 1 ET-A receptor in a case of congenital diaphragmatic hernia].

Masson L1, Houfflin-Debarge V2, Petit F3, Vaast P3, Coulon C3.
Journal de gynécologie, obstétrique et biologie de la reproduction.J Gynecol Obstet Biol Reprod (Paris).2015 Apr;44(4):387-90. doi: 10.1016/j.jgyn.2013.12.009. Epub 2014 May 17.
Congenital diaphragmatic hernia has a physiopathology unfully understood, and is the cause of an important morbimortality. We report the case of a fetus suffering from a diaphragmatic hernia associated with a EDNRA gene triplication, coding for the endothelin 1 receptor. High-resolution genetic tech
PMID 24842646

KANO-TANAKA Kyoko,FUKAMI Hiroko,KATO Taiji,ITO Jin-ichi,TANAKA Tatsuya
Ｐｒｏｃｅｅｄｉｎｇｓ　ｏｆ　ｔｈｅ　Ｊａｐａｎ　Ａｃａｄｅｍｙ．　Ｓｅｒ．　Ｂ：　Ｐｈｙｓｉｃａｌ　ａｎｄ　Ｂｉｏｌｏｇｉｃａｌ　Ｓｃｉｅｎｃｅｓ 62(10), 395-397, 1986
… XY, 2q-, 4q+ and 12 trisomy, predominated and the cells with an additional 10p+ were less frequently observed. …
NAID 130000905799