Browsing by Subject "karyotyping"
Now showing items 1-5 of 5
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7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case
(2017)Holoprosencephaly (HPE) spectrum disorder is the most common congenital malformation of the human brain with absence of or incomplete midline cleavage. Its cause is heterogenic, making genetic counseling a challenge. In ... -
Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report
(2019)In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, ... -
Chorionic villi derived mesenchymal like stem cells and expression of embryonic stem cells markers during long-term culturing
(2016)Mesenchymal stem cells (MSCs) can be obtained from a variety of human tissues. MSCs derived from placental chorionic villi of the first trimester are likely to resemble, biologically, embryonic stem cells (ESC), due to the ... -
Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male
(2015)Interstitial deletions of the long arm of chromosome 11 are rare, and they could be assumed as non-recurrent chromosomal rearrangements due to high variability of the size and the breakpoints of the deleted region. The ... -
Two cases of bovine holoacardius amorphus monsters [Μελέτη δυο περιπτώσεων ακάρδιων άμορφων (Holocardius Amorphous totalis) τεράτων οε βοοειδή]
(2017)Two rare cases of holoacardius amorphus totalis monsters are reported herewith. The monsters were examinedmacroscopically, radiographically and histologically, whereaskaryotyping was performed in one normal twin. Both ...