Trisomy chromosome (22)(q13.1-qter) as a result of paternal inversion (22)(p11q13.1) proved using region-specific FISH probes.
نویسنده
چکیده
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 recombinant derived from the paternal inversion (22)(pllq13.1), was confirmed using results of silver staining for nucleolar organizer regions (NOR) and fluorescence in situ hybridization with region-specific probes (D22S75/D22S39 and Mbcr). This case further delineated the clinical entity of duplicated 22q13 or distal trisomy 22.
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...
متن کاملPartial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).
An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter----q13.1::q13.33----qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 22. Clinical features include developmental delay in all areas, hypotonia, macrosomia, full cheeks, eyebrows, and eyelids, mild epicanthus, wide nas...
متن کاملSkin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q.
We report on a 22 year old man with hyperpigmentation distributed along the lines of Blaschko in whom cytogenetic analysis showed mosaicism for an unusual supernumerary marker chromosome. The patient was of normal intelligence and was not dysmorphic. The marker was present in 30% of his lymphocytes and in 6% of his skin fibroblasts from a dark area, while fibroblasts from a light area showed a ...
متن کاملCryptic subtelomeric translocations in the 22q13 deletion syndrome.
Cryptic subtelomeric rearrangements are suspected to underlie a substantial portion of terminal chromosomal deletions. We have previously described two children, one with an unbalanced subtelomeric rearrangement resulting in deletion of 22q13-->qter and duplication of 1qter, and a second with an apparently simple 22q13-->qter deletion. We have examined two additional patients with deletions of ...
متن کاملIdentification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH).
Supernumerary marker chromosomes (SMCs) are rare chromosomal abnormalities resulting in partial trisomy of specific genomic regions with characteristic phenotypic effects. Twenty six cases with autosomal SMCs are reported. Four were identified prenatally and 22 postnatally in children, aged from 8 days to 15 years, who were referred for genetic evaluation because of various congenital anomalies...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Chang Gung medical journal
دوره 28 9 شماره
صفحات -
تاریخ انتشار 2005