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Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [1] Its name is a French term ("cat-cry" or " call of the cat ") referring to the characteristic cat-like cry of affected children (sound sample [1] ). [ 2 ]
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
If there was a surplus or deficiency in any of the chromosomes, this meant that there was a fetal aneuploid. Using this method of shotgun sequencing, the successful identification of trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome), and trisomy 13 (Patau syndrome) was possible.
Autoimmune polyendocrine syndrome type 1; Autoimmune polyendocrine syndrome type 2; Autoimmune polyendocrine syndrome type 3; Autoimmune polyendocrine syndrome; Autoinflammatory syndromes; Avellis syndrome; Axenfeld syndrome; Axial spondyloarthritis; Ayazi syndrome
Rather than having monosomy, or only one copy, the majority of aneuploid people have trisomy, or three copies of one chromosome. [citation needed] An example of trisomy in humans is Down syndrome, which is a developmental disorder caused by an extra copy of chromosome 21; the disorder is therefore also called trisomy 21. [7]
This includes balanced and unbalanced translocation, with two main types: reciprocal, and Robertsonian translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two detached fragments of two different chromosomes are switched.
Smith–Magenis syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. [1] It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm. Smith–Magenis syndrome affects an ...
Unlike the flexible flat foot that is commonly encountered in young children, congenital vertical talus is characterized by presence of a very rigid foot deformity. The foot deformity in congenital vertical talus consists of various components, namely a prominent calcaneus caused by the ankle equines or plantar flexion, a convex and rounded sole of the foot caused by prominence of the head of ...