1/82. Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2, der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/82. Intracytoplasmic sperm injection pregnancy with trisomy 20p and monosomy 22q in a newborn resulting from a balanced paternal translocation.In infertile men who carry a balanced reciprocal translocation, intracytoplasmic sperm injection (ICSI) may induce a pregnancy with an abnormal karyotype. This report describes a previously unreported paternal reciprocal translocation leading to a chromosomally unbalanced ICSI pregnancy. The triplet pregnancy resulted in 1 normal girl, 1 physically normal boy with the same balanced paternal translocation, and a severely malformed boy with trisomy 20p and monosomy 22q who died in the neonatal period.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/82. Mucosa-associated lymphoid tissue (MALT) lymphoma of the rectum with chromosomal translocation of the t(11;18)(q21;q21) and an additional aberration of trisomy 3.A rare case of primary mucosa-associated lymphoid tissue lymphoma (MALT) of the rectum is reported. A 56-yr-old man was referred to our hospital for further examination and treatment of rectal neoplasm. A physical examination and laboratory data showed no special abnormalities. However, endoscopic colorectal observation revealed multiple red and slightly elevated nodular lesions with erosive changes of the rectum. The lesions were composed of diffuse, small atypical lymphoid cells (i.e., centrocyte-like cells) and were stained with L26 and BCL-2 but not cyclin d1. Surface markers of cells obtained from biopsy specimens were CD5-, CD10-, CD19 , CD20 , kappa , and lambda-. No BCL-2 gene rearrangement was observed. The clonal karyotype of t(11;18)(q21;q21) was observed in six of nine lymphoid cells. trisomy was also identified two of 144 cells by fluorescence in situ hybridization. We report a rare case of the rectal MALT lymphoma bearing characteristic chromosomal aberrations; t(11;18)(q21;q21) and trisomy 3. We suggest that chromosomal analysis using biopsy specimens may be useful for the diagnosis of MALT lymphoma.- - - - - - - - - - ranking = 2.4678866765322keywords = physical examination, physical (Clic here for more details about this article) |
4/82. male infertility associated with a unique 8;22 translocation.Proper evaluation of male infertility includes a careful history, physical examination, semen analysis, and karyotyping. Molecular cytogenetic analysis may also be necessary to further delineate the karyotype. Following the above approach, we found an apparently unique 8;22 translocation in a male patient with infertility but few other phenotypic manifestations. Delineating the exact genetic basis of infertility is important in view of the most recent advances in reproductive technology such as in vitro fertilization and intracytoplasmic sperm injection. patients utilizing these emerging techniques need to be properly counseled as to their risks of transmitting these chromosomal abnormalities to their offspring.- - - - - - - - - - ranking = 2.4678866765322keywords = physical examination, physical (Clic here for more details about this article) |
5/82. Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.We describe a 1-year-old boy with mental and physical retardation, a large anterior fontanel, brachycephaly with flat occiput, short and stubby fingers, generalized hypotonia, ocular hypertelorism, low-nasal bridge, long philtrum, high-narrow palate, apparently low-set ears, and a small mandible. cytogenetic analysis utilizing high resolution chromosome banding technique showed an unbalanced karyotype consisting of 46,XY,add(21)(q22.3) that originated from maternal balanced translocation between chromosomes 7 and 21. fluorescence in situ hybridization (FISH) using micro-dissected library probe pool from chromosome 7 confirmed the additional material on 21q was derived from chromosome 7. Our results indicated that the patient had an unbalanced translocation, 46,XY, der(21)t(7;21)(p21.2;q22.3)mat, which resulted in duplication for distal 7p. Our patient is similar to reported cases with a 7p15-->pter or larger duplication of 7p, suggesting that the critical segment causing the characteristic phenotype of 7p duplication syndrome, including large anterior fontanel, exists at 7p21.2 or 7p21.2-->pter.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/82. Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding.Cryptic unbalanced chromosome rearrangements in the telomeric bands of the chromosomes may constitute a significant cause of unexplained mental retardation with or without congenital anomalies. We report on a boy with a terminal deletion of the long arm of chromosome 13, combined with a partial duplication of the short arm of chromosome 20, owing to a cryptic balanced translocation in his father. The karyotype of the father was 46XY,t(13;20)(q34;p13). The propositus presented with severe mental and growth retardation, microcephaly, facial anomalies including ptosis of the right upper eyelid, a high nasal bridge, small palpebral fissures, and bilateral epicanthus, hypospadias, and scoliosis. A younger brother died at birth and had a low birth weight, hypospadias, and a horseshoe kidney. Repeated chromosome analyses with high resolution banding in the propositus and his parents were apparently normal. chromosome painting eventually disclosed the cryptic translocation in the father with unbalanced karyotype in the propositus. The importance of additional FISH analysis in patients with unexplained mental retardation, physical anomalies, and apparently normal chromosomes is emphasized.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/82. trisomy 2q35-q37 due to insertion of 2q material into 17q25: clinical, cytogenetic, and molecular cytogenetic characterization.We present a 7-year-old boy with growth retardation, developmental and mental delay, and minor physical abnormalities. The patient had a male karyotype with duplicated material of unknown origin in the long arm of chromosome 17. The origin of the duplicated material was clarified by fluorescence in situ hybridization. Forward chromosome painting showed that the extra material originated from chromosome 2, which was inserted into 17q25. Further characterization of the aberrant chromosome 17 by microdissection and reverse chromosome painting revealed a duplication of bands 2q35 to q37.1. To our knowledge, no other individual with a duplication of this small segment has been described so far. The clinical findings of 13 cases with isolated trisomy 2q are reviewed in relation to the size of the duplicated region. Functional analysis of the duplicated 2q region suggests that critical loci for visceral and central nervous system development in distal trisomy 2q are proximal to 2q33.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/82. Molecular cloning of translocation breakpoints in a case of constitutional translocation t(11;22)(q23;q11) and preparation of probes for preimplantation genetic diagnosis.in vitro fertilization (IVF) centres with preimplantation genetic diagnosis (PGD) programmes are often confronted with the problem of identifying chromosomal abnormalities in interphase cells biopsied from preimplantation embryos of carriers of a reciprocal translocation. The present authors have developed a dna testing based approach to analyse embryos from translocation carriers, and this report describes breakpoint-spanning probes to detect abnormalities in cases of the most common human translocation (i.e. the t(11;22)(q23;q11)). Screening a yeast artificial chromosome (YAC) library for probes covering the respective breakpoint regions in the patient lead to probes for the breakpoint on chromosome 11q23. The physically mapped YAC and bacterial artificial chromosome (BAC) clones from chromosome 22 were then integrated with the cytogenetic map, which allowed localization of the breakpoint on chromosome 22q11 to an interval of less than 84 kb between markers D22S184 and KI457 and to prepare probes suitable for interphase cell analysis. In summary, breakpoint localization could be accomplished in about 4 weeks with additional time needed to optimize probes for use in PGD.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/82. Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31.Childhood autism is characterised by impairments in communication and reciprocal social interaction together with restricted/stereotyped interests, which are evident before 3 years of age. Specific developmental disorders of speech and language (SDDSL) are characterised by impairment in the development of expressive and/or receptive language skills which is not associated with intellectual, sensory, physical, or neurological impairment. family and twin studies indicate a substantial genetic component in the aetiology of both disorders. They also reveal increased rates of SDDSL in relatives of autistic individuals, suggesting that this phenotype can represent one manifestation of the genetic liability for autism. Modelling of the recurrence risk for autism and milder phenotypes, such as SDDSL, suggest that three or four epistatic loci may be aetiologically involved. A recently published linkage study of an exceptional family with an apparently dominantly inherited SDDSL implicated chromosome band 7q31 as the site of the putative susceptibility locus (SPCH1). This region of chromosome 7 also shows strong linkage in multiplex families with autism. We present two individuals (one has autism, the other SDDSL) with different, apparently balanced chromosome rearrangements involving a breakpoint at 7q31.3. fluorescence in situ hybridisation was used to localise the breakpoints to an approximately 1 cM interval between CFTR and D7S643. Our findings may be of interest and relevance to the genetic aetiology of autism, and helpful in the search for susceptibility loci for SDDSL and autism. Am. J. Med. Genet. (Neuropsychiatr. Genet. ) 96:228-234, 2000.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/82. Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5).A term Caucasian male infant, born to a healthy non-related couple, was noted at birth to have bilateral edema and bluish discoloration of the lower eyelids. On physical examination, the eye globes were not visualized and hypertelorism was noted. Radiological imaging revealed large bilateral orbital cysts, microphthalmos, and severe optic nerve hypoplasia. Histological study of the excised orbital masses showed cysts lined by primitive, immature retinal tissue which contained neuroglial elements and scattered dysplastic rosettes. Chromosome analysis revealed an apparent balanced reciprocal translocation between the long arm of chromosome 3 and 5, i.e. 46, XY, t (3; 5) (q27; q11.2).Chromosome studies in parents were normal. To our knowledge, the association of this balanced translocation and microphthalmos with cyst has not been previously described in the English literature.- - - - - - - - - - ranking = 2.4678866765322keywords = physical examination, physical (Clic here for more details about this article) |
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