Cases reported "Growth Disorders"

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1/342. Sporadic bilateral retinoblastoma and 13q- chromosomal deletion.

    Unilateral retinoblastoma (Rb) is usually a sporadic occurrence while bilateral (multifocal) cases are often familial. Sporadic bilateral Rb associated with a long-arm deletion of a D-group chromosome has been reported in 8 children. We have studied a 6-year-old female with bilateral sporadic retinoblastoma, treated during infancy by enucleation and radiotherapy. chromosome banding studies on peripheral lymphocytes revealed an interstitial deletion from the long arm of a chromosome 13: del(13) (q12q14). Three additional patients reported in the literature had interstitial 13q- deletions, involving slightly different though overlapping regions. The only chromosomal region consistently missing in all of these 4 cases appears to be part of the lightly staining band 13q14. We, therefore, propose this site as the precise location of a gene (or genes) involved in retinal development. Our patient lacked features of the classic 13q- or 13-ring syndrome, which involves deletion of a more distal portion of the 13 long arm. When compared to reported patients with Rb and 13q-, it became apparent that there may be a separate recognizable syndrome consisting of moderate growth and developmental delay, characteristic facies and external ears, and bilateral sporadic Rb, which is associated with an interstitial 13q- deletion.
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keywords = chromosome
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2/342. Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile x syndrome phenotype and overgrowth.

    A four-year-old boy with severe psychomotor retardation, facial appearance consistent with the fragile x syndrome, hypotonia, and overgrowth was found to have a deletion including the fragile X gene (FMR1). The breakpoints of the deletion were established between CDR1 and sWXD2905 (approximately 200 kb apart) at Xq27.1 (centromeric) and between DXS8318 (612-1078L) and DXS7847 (576-291L) (approximately 250 kb apart) at Xq28, about 500 kb telomeric to the FMR1 gene. The total length of the deletion is approximately 8.5 Mb. The propositus's mother, who was found to be a carrier of the deletion, showed very mild mental impairment. Except for mental retardation, which is a common finding in all cases reported with similar deletions of chromosome Xq, this patient had generalized overgrowth, exceeding the 97th centile for height and weight. obesity and increased growth parameters have been reported in other patients with deletions either overlapping or within a distance of 0.5 Mb from the deletion in the present patient. Thus, it is suggested that a deletion of the 8-Mb fragment centromeric to the FMR1 gene might have an effect on growth.
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keywords = chromosome
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3/342. Normal expression of the fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome.

    Seckel syndrome is a rare autosomal recessive disorder. The classical presentation includes pre- and postnatal growth deficiency, mental retardation, and characteristic facial appearance. There have been several reports of associated hematological abnormalities and chromosomal breakage, findings suggestive of fanconi anemia (FA). We tested for these findings in two Arabic patients with this syndrome. We compared the growth profile of lymphoblastoid cells from our patients and their parents with the FA group A cell line HSC72 in the presence and absence of mitomycin C (MMC). By Western analysis, we also determined the expression of FAA and FAC, two FA disease gene products that together account for approximately 80% of FA. Unlike HSC72 cells, cells from the patients were resistant to MMC, and both FAA and FAC proteins were expressed at similar levels in all cell lines. There is an increasing recognition of clinical variability and perhaps genetic heterogeneity in Seckel syndrome. Our results demonstrate that cross-link sensitivity comparable to FA is not a uniform finding in patients with Seckel syndrome.
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ranking = 0.22191376771306
keywords = breakage
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4/342. Two male patients with ring Y: definition of an interval in Yq contributing to turner syndrome.

    turner syndrome is thought to result from the haploinsufficiency of genes on the sex chromosomes, but these genes have not been identified yet. We describe two males with deleted ring Y chromosomes, one (TS) with full turner syndrome and one (DM) without. TS has short stature, skeletal anomalies, lymphogenic obstruction, cardiovascular abnormalities, and miscellaneous features including pigmented naevi, antimongoloid slanting of the palpebral fissures, and widely spaced nipples. In contrast, DM has short stature but no other specific Turner stigmata except high arched palate and a few pigmented naevi. Since little chromosomal mosaicism was detected, the different segments of the y chromosome retained by these two males identify the location of one or more "anti-Turner" genes. Most of the Yp pseudoautosomal region and Yq were deleted from both patients during the formation of the ring chromosome, while the Y specific portion of Yp and the centromere were retained. The major difference detected was an interval of proximal Yq present in DM and deleted in TS. None of the previously identified genes, DFFRY, DBY, UTY, or TB4Y, lies entirely within this interval, although DFFRY was truncated by DM's breakpoint. These data suggest that one or more additional "anti-Turner" gene(s) remains to be identified in the region of Yq proximal to DFFRY.
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5/342. Interstitial deletion of bands 11q21-->22.3 in a three-year-old girl defined using fluorescence in situ hybridization on metaphase chromosomes.

    A 3-year-old girl has a de novo deletion of 11q21-22.3. The patient was studied because of minor anomalies, disproportionate short stature, and developmental delay. The deletion was first detected by conventional cytogenetic analysis and defined further by using chromosome 11-specific YAC clones by fluorescent in situ hybridization (FISH) on metaphase chromosomes. Three YAC clones, 11H7, 4A5, and IH4, were lacking from one of the patient's chromosome 11. Trigonocepahly, hypertelorism, apparently low-set ears, mild renal abnormality, and delay in speech development found in our patient are similar findings in other published interstitial deletion cases. Our study shows that a molecular cytogenetic approach is useful in defining the specific location and the extent of an interstitial deletion in cytogenetically difficult areas such as 11q.
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6/342. Short stature, myopia, severe developmental delay, and peculiar facial appearance in two brothers: a new syndrome?

    We report on 2 brothers with short stature, microcephaly, myopia, retarded osseous maturation, severe developmental delay, and minor anomalies including temporal narrowing, periorbital fullness, full cheeks in infancy, and protruding lower lip. Both brothers and their parents had normal chromosomes. fluorescence in situ hybridization with probes from all (sub-)telomeric chromosomal regions excluded a structural rearrangement involving telomeric segments. Because the pattern of congenital abnormalities is not like that of any well-known multiple congenital anomaly/mental retardation syndrome, we suggest a previously undescribed syndrome of autosomal recessive or X-linked inheritance.
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keywords = chromosome
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7/342. Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.

    The clinical presentation of prenatal and postnatal growth deficiency, triangular face, relative macrocephaly, and body asymmetry is frequently diagnosed as Russell-silver syndrome (RSS). Maternal uniparental disomy (UPD) of chromosome 7 was reported previously in a small subset of individuals with RSS phenotype or primordial growth retardation. The primary purpose of this study was to identify RSS patients with UPD7 and determine whether or not they present phenotypic findings that distinguish them from RSS patients without UPD7. UPD7 testing was performed in 40 patients with unexplained growth retardation, including 21 patients with a diagnosis of RSS. In addition, a subset of patients was screened with markers spanning chromosome 7 to detect potential microdeletions or segmental uniparental disomy. Two of the RSS cases were identified to have maternal UPD7; no cases with deletion or partial UPD were detected. Together with previously published studies, UPD7 was identified in 11/120 (9%) of individuals with classical RSS phenotype. Our patients with UPD7 and those previously published had a classical RSS phenotype and were not clinically distinguishable from other children diagnosed with RSS.
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8/342. 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.
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ranking = 2.5
keywords = chromosome
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9/342. in vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene.

    OBJECTIVES: patients with single allele defects in the gene encoding the type 1 IGF receptor have been reported to have growth failure, but fibroblasts from affected patients have not exhibited insensitivity to the effects of IGF-I in vitro. The in vitro and in vivo responses to short-term recombinant human IGF-I (rhIGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene have been investigated. DESIGN AND PATIENT: The child exhibited prenatal and severe post-natal growth failure, and delayed psychomotor development. Southern blotting revealed a 50% reduction in IGF-I receptor dna, and in an RNase protection assay (RPA), a quantitatively similar reduction in steady-state mRNA for type 1 IGF receptor. rhIGF-I was administered in graded doses of 40, 60 and 80 microg/kg twice daily by subcutaneous injection for periods of 2-2.5 days each. RESULTS: During rhIGF-I treatment, mean urinary nitrogen excretion was unchanged and urinary calcium rose to 60% greater than in the pre-treatment period. rhIGF-I injections produced only a modest decrease in indices of GH secretion, assessed by frequent (every 20 min) sampling over periods of 12 h. There was no significant difference between the mean GH concentrations during rhIGF-I treatment (5.32 /- 6.2 mU/l) compared with that before rhIGF-I treatment (8.46 /- 10.2 mU/l). Mean IGFBP-3-values were increased (4.5 mg/l before vs. 5.4 mg/l during rhIGF-I). TSH values after injection of TRH were not significantly reduced by IGF-I (mean of all values, 18.6 mU/l vs. 15.5 mU/l during rhIGF-I treatment). in vitro binding of radiolabelled IGF-I to the patient's fibroblasts was less than that bound by control fibroblasts (patient, 0.69% binding by 248 000 cells, vs. 1.41% binding by 260 000 fibroblasts from an age-matched control). However, the patient's fibroblasts exhibited a growth response in vitro to the addition of IGF-I in a fashion similar to that of control fibroblasts. CONCLUSIONS: These studies show evidence in each of the indices examined of in vivo resistance to IGF-I and suggest that the growth retardation observed in such patients may be the direct result of the absence of one of the alleles encoding the type 1 IGF receptor.
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ranking = 2.5
keywords = chromosome
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10/342. Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.

    The term "ring syndrome" was proposed to describe a phenotype of growth failure without major malformations due to a ring autosome. The growth failure is thought to be caused by instability of the ring chromosome leading to aneusomy and cell death. Most previous studies of ring chromosomes were based on standard cytogenetic banding techniques and were limited to microscopically detectable deletions in the ring chromosomes. We report on two patients with complete ring (4) and ring (9) chromosomes, respectively. The first was a 15-month-old girl and the second was a 16-month-old boy. They both presented with severe, symmetrical growth failure and normal psychomotor development in the absence of malformations. Their parents had a normal phenotype. The first case had a whorled pattern of hyperpigmentation and hypopigmentation on part of the face and chest, and the second case had a patchy hyperpigmented rash on the trunk. Peripheral blood karyotype of the first patient was 46,XX, r(4)(p16.3q35.2) and of the second 45,XY,-9/46,XY,r(9)(p24q34.3). G-band analysis suggested no loss of material in the ring chromosomes. These findings were confirmed by fluorescence in situ hybridization (FISH) analysis using chromosome-specific subtelomeric probes. The common human telomeric sequences were intact in the first patient but absent in the second patient. The cytogenetic and FISH data in our two cases provide further evidence for the existence of a "complete ring" phenotype independent of the autosome involved. Pigmentary skin changes are a useful clinical sign of mosaicism caused by the ring instability.
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