Monozygotic dichorionic diamniotic twins with large interstitial deletion of chromosome 1p
نویسندگان
چکیده
منابع مشابه
Monozygotic twins with chromosome 22qll deletion and discordant phenotype
cannot currently be estimated, as ascertainment of such patients is usually on the basis of the presence of a heart lesion. In addition, the true prevalence of 22qll deletions is not known, although a lower limit of 1:4000 has been quoted on the basis of children presenting with congenital heart defects.2 Thus, until prospective studies are carried out that allow complete ascertainment of subje...
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We report monozygotic twins concordant for 22q11.2 deletion but discordant for clinical phenotype. Both boys show the typical dysmorphic features with short palpebral fissures, square nasal tip, small mouth, and both have nasal speech, but only one twin had a heart defect. They show that the phenotypic variability seen in this microdeletion syndrome cannot be explained on the basis of genotypic...
متن کاملThe precise timing of embryo splitting for monozygotic dichorionic diamniotic twins: when does embryo splitting for monozygotic dichorionic diamniotic twins occur? Evidence for splitting at the morula/blastocyst stage from studies of in vitro fertilization.
There is a long-held credo, as illustrated in Langman's Medical Embryology (11th ed., Sadler, 2010), that dichorionic diamniotic (DD) twins develop after embryo splitting in the early stages of embryonic development. However, from our clinical experiences of the examination of data from single-embryo transfers in 16 fertility clinics in Japan and from various reports, the majority of occurrence...
متن کاملTwo cases of interstitial deletion 1p.
We report two cases of interstitial deletion of the short arm of chromosome 1. The first was a 10 year old boy whose karyotype was 46,XY,del(1) (p22.1p31.2); the second was a 6 month old boy with a chromosome complement of 46,XY,del(1) (p22.3p31.3). A number of the malformations observed were common to both cases. There has been one previously reported case with the same breakpoints as our case...
متن کاملMonozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis.
The completion of the human genome sequence affords novel approaches to studies on contiguous gene deletion syndromes. These syndromes are caused by a deletion and loss of one copy of a set of contiguous genes on a given chromosome. Here, the syndromic phenotypes are often attributed to haploinsufficiency of a number of deleted genes. One such syndrome deals with deletion of 22q11.2. It is the ...
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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2019
ISSN: 2050-0904,2050-0904
DOI: 10.1002/ccr3.2358