Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.
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منابع مشابه
Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.
A case of a 27 year old male with a duplication of part of the long arm of chromosome 22 (22q11.2-q13.1) together with a pericentric inversion of the same chromosome is reported. Particular phenotypic features of note include absence of speech, persistent self-injury, lack of daily living skills, colobomata, and very poor vision. Similarities between this case and other case reports of duplicat...
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Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmonary atresia, ambiguous genitalia, clinodactyly, and sacral dimpling. To our knowledge, this is th...
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We present a male infant with multiple congenital anomalies including severe growth retardation, microcephaly, hypertelorism, low-set ears, bilateral cleft lip and palate, micrognathia, cryptorchidism with hypospadias, hemivertebrae, and complex heart defects. The karyotype was 46, XY, rec(22) dup(22q) inv(22)(p11q13)pat. The duplicated segment (q13.1 -->qter), a result of an unbalanced recombi...
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URING a study of the arginine-1 locus in Neurospora crmsa, one mutant strain (H4250) was found to produce, on crossing to wild type, an unusual class of progeny. These progeny initially show very slow “inhibited” growth with a characteristic spidery morphology, and are darkly pigmented on complete medium; they are therefore called Dark Agars. After several days, they escape from the inhibition ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1995
ISSN: 1468-6244
DOI: 10.1136/jmg.32.4.306