Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype

Abstract

A baby is described with 45,X/46,XX,i(21q) mosaicism. DNA analysis indicated that the abnormality arose from two independent postzygotic mutations in a 46,XX zygote, involving the paternal chromosomes 21 and X. In agreement with previous reports, most of the clinical dysmorphisms observed were consistent with Down syndrome. Moreover, congenital heart disease consisted of an atrioventricular canal associated with slight hypoplasia of the left ventricle and a mitral anulus, a complex defect including features found in both Down and Turner syndromes.

Turner syndrome associated with Down syndrome: about a case

“…It has been reported that in cases of double aneuploidy, where autosomes and sex chromosomes are involved, clinical manifestations related to autosomes regularly predominate and clinical manifestations related to sex chromosomes tend to be hidden [9][10][11][12][13][14][15][16][17][18][19][20][21] . The Down-Turner presentation behaves like mosaicism in most cases and the Down phenotype predominates.…”

Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance

“… b Abdalla and Nabil (2012); Afonso Lopes, Benador, Wacker, Wyss, and Sizonenko (1995); Aver’ianov, Bogomazov, and Logunova (1977); Baguena Candela, Forteza Bover, and Amat Aguirre (1965); Baguena Candela, Forteza Bover, Ortiz Hernandez, and Comin Ferrer (1966); Bajnóczky and Méhes (1979); Banes, Begleiter, and Butler (2003); Barakat and Der Kaloustian (1973); Becerra-Solano et al (2008); Beck and Mikkelsen (1981); Blaise et al (2005); Brouns et al (2009); Chelly et al (1986); Chen, Tyrkus, and Woolley (1978); Chuansumrit et al (1999); Coğulu, Tirpan, Ozkinay, Gündüz, and Ozkinay (2002); Cohen and Davidson (1972); DeBrasi et al (1995); Digilio, Mingarelli, Giannotti, Melchionda, and Dallapiccola (1994); Dobkin, Radu, Ding, Brown, and Nolin (2009); Edgren, de la Chapelle, and Kääriäinen (1966); Eiben, Hansen, Goebel, and Hammans (1989); Feiertag-Koppen, Anders, Stronk, and Boevé (1966); Ferrier, Bamatter, and Klein (1965); Fontenele, Costa-Santos, and Kater (2018); Franceschini et al (1996); Freedenberg et al (1999); Gafter, Shabtal, Kahn, Halbrecht, and Djaldetti (1976); Gatrad (1981); Gengel and Marshall (2017); Genuardi et al (1999); Gilchrist, Hammond, and Melnyk (1965); Gilgenkrantz, Briquel, Mandel, and Oberle (1986); Grosse, Hopfengärtner, and Schwanitz (1971); Guenego, Morel, Ionesco, Mallet, and Priou-Guesdon (2015); Gutmann, Brooks, Emanuel, McDonald-McGinn, and Zackai (1991); Harada et al (1998); Hatipoglu, Kurtoglu, Kendirci, Keskin, and Per (2010); Hoppman-Chaney, Jang, Jen, Babovic-Vuksanovic, and Hodge (2012); Hunter (2017); Hustinx, Haar, Scheres, and Rutten (1974); Igarashi, Tsukahara, Sugio, Katayama, and Kajii (1985); Ikonen et al (1989); Jansen, Kruger, and Liebenberg (1991); Jaruratanasirikul and Jinorose (1995); Kaczorowska et al (2016); Kan, Fujita, Sato, Okajima, and Fukui (1976); Klosovskiĭ, lankova, Fateeva, and Damanskaia (1968); Knudtzon, Ledaal, Middelthon-Moe, and Aarskog (1988); Ko, Lee, Hong, and Hwang (2010); Koçak-Midillioglu, Karadeniz, Yalvaoç, Koçak-Altintas, and Duman (2003); Krutilkova et al (2005); Kumar, Lal, Chapadgaonkar...…”