Cases reported "Abnormalities, Multiple"

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1/15. Prenatal sonographic diagnosis of Holt-Oram syndrome.

    Holt-Oram syndrome is an autosomal dominant disorder characterized by heart defects in combination with characteristic upper-limb abnormalities. A woman with no family history of genetic diseases underwent prenatal sonography at 25 weeks' menstrual age to screen for fetal anomalies. Sonography revealed abnormalities in the upper limbs and heart. The limb abnormalities included bilateral absence of radii and thumbs: the left hand had no carpal or metacarpal bones, and each of the 4 fingers on that hand had only 1 phalangeal bone. Cardiac malformations included an atrial septal defect and Ebstein's anomaly. Other structures were normal. Prenatal cytogenetic analysis by cordocentesis revealed a normal 46,XY karyotype. Spontaneous labor and delivery at 34 weeks' menstrual age produced a 1,960-g male infant who died of cardiac insufficiency shortly after birth. The postnatal appearance and autopsy findings confirmed the prenatal findings. In this case, Holt-Oram syndrome was readily diagnosed by prenatal sonography.
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2/15. Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL.

    There is increasing evidence that cytogenetically invisible chromosome rearrangements are an important cause of genetic disease. Clues to the chromosomal location of these rearrangements may be provided by a specific clinical diagnosis, which can then be investigated by targeted FISH or molecular studies. However, the phenotypic features of some microdeletion syndromes are difficult to recognise, particularly in infants. In addition, the presence of other chromosome aneuploidy may mask the typical clinical features. In the present study, the presence of tubers on cranial magnetic resonance imaging (MRI) of a 5-week-old infant prompted an investigation, by FISH, with probes from the tuberous sclerosis gene, TSC2. This and further FISH deletion mapping studies revealed a submicroscopic deletion encompassing the entire TSC2 gene and the adjacent PKD1 gene on one chromosome 16, confirming a del(16)(p13.3). Because of the large number of abnormal phenotypic features in this infant, we performed a 12-colour FISH assay (M-TEL) to screen for subtelomeric rearrangements involving the del(16p). The M-TEL assay revealed a cryptic der(16)t(16;19)(p13.3;p13.3). Further FISH with 19p and 19q subtelomeric probes demonstrated that this was derived from a balanced maternal t(16;19)(p13.3;p13.3). Importantly, 24-colour painting by multiplex FISH (M-FISH) failed to detect the translocation in either the infant or his mother. Based on our FISH mapping studies, we estimate the size of the trisomic region from 19p13.3 to be approximately 2 Mb, and the region of monosomy for 16p13.3 as 2.25 Mb. This case adds to the growing literature which indicates that many apparent chromosomal deletions are unbalanced translocations. The M-TEL assay provides a sensitive alternative to M-FISH for the detection of these subtle telomeric rearrangements.
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3/15. Extreme caudal agenesis. Possible drug-related etiology?

    BACKGROUND: Caudal regression syndrome (CRS) is a rare anomaly of the lower body pole that represents a continuum of congenital malformations ranging from isolated sacral agenesis to absence of the lumbosacral spine and major visceral anomalies. While the exact etiology of this syndrome is unclear, maternal diabetes, genetic factors, teratogens and vascular anomalies altering blood flow have been hypothesized to play a role in its pathogenesis. CASE: A fetus had extreme hypotrophy of the caudal body pole, aplasia of the lower spine and complete renal agenesis diagnosed in the second trimester by ultrasound. Maternal history revealed the use of minoxidil solution for preventing hair loss for four years prior to and during gestation. Also, the mother had taken trimethoprim-sulfamethoxazole during the first trimester for treatment of upper respiratory disease. No maternal diabetes or history of familial genetic diseases was evident. CONCLUSION: In an extreme form of CRS consisting of complete aplasia of the lower body pole and viscera and additional malformations, a possible drug-related etiology was suggested but should be confirmed by more studies.
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4/15. Aicardi's syndrome in a female infant with a family history of miscarried male siblings.

    Aicardi's syndrome is thought to be an X-linked genetic disease, although the mechanism for transmission remains uncertain. We report on a four-month-old female patient with Aicardi's syndrome. She was born prematurely at 28 weeks' gestation, weighing 1,500 g. Asymmetric myoclonic jerks developed at one month of age. Her left eye showed chorioretinal lacunae and a coloboma on the optic disc, while the right eye was microphthalmic with total retinal detachment. A CT scan disclosed heterotopia and dysgenesis of the corpus callosum. Abnormal development of the thoracic vertebrae was also evident. The most remarkable aspect of this case was that the patient's mother had suffered three miscarriages. Two are known to have been male, but the other gender is unknown. This family history may support the theory that there is a factor, lethal for males, involved in the genetic transmission of Aicardi's syndrome.
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5/15. Unilateral isolated microphthalmia inherited as an autosomal recessive trait.

    PURPOSE: To report a family with unilateral isolated microphthalmia showing an autosomal recessive pattern of inheritance. CASE REPORT: We report a family in which three out of four children, one male and monozygotic female twins, were born with unilateral isolated microphthalmia to healthy consanguineous parents. One twin additionally had a horseshoe kidney. Rare cases of familial isolated microphthalmia/anophthalmia have been previously described. This is the first report of a family with autosomal recessive isolated microphthalmia occurring unilaterally in all affected individuals. It remains unknown how this inherited genetic disease results in unilateral manifestation. CONCLUSION: Mirror imaging of this condition in the monozygotic twins may help elucidate the underlying mechanism. The constellation of features in this family may contribute to solve remaining questions of research into symmetry and asymmetry.
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6/15. Bilateral patellar dislocation associated with alpha-mannosidase deficiency.

    Mannosidosis is an extremely rare genetic disease characterized by a deficiency of the lysosomal enzyme, alpha-mannosidase. This enzyme is necessary for cleavage of mannose from many glycoproteins. In the absence of this enzyme, mannose accumulates in cells throughout the body, including the joints and the synovium. This disease causes many skeletal changes including dysostosis multiplex, synovial hypertrophy, and Charcot-type joints. We report the case of a girl, aged 9 years and 6 months, who developed bilateral patellar dislocation and severe synovial hypertrophy secondary to alpha-mannosidase deficiency. Her disease was further complicated by Charcot elbow and bilateral hip and elbow avascular necrosis.
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7/15. A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

    Roberts syndrome (RS) is a rare disorder characterized by tetraphocomelia and several other clinical features. Cells from RS patients exhibit characteristic premature separation of heterochromatic region of many chromosomes and abnormalities in cell cycle. Mutations in the ESCO2 gene have recently been identified in 20 RS families. We performed mutational analysis of the ESCO2 gene in two fetuses diagnosed with RS and their normal parents. In both fetuses, we identified homozygosity for the c. 745_746delGT mutation, while the non-consanguineous parents were both heterozygous for the same mutation. Considering the position of the mutation identified, we carried out qualitative and quantitative real-time ESCO2 cDNA analysis on rna isolated from CVS-stromal cells in one fetus, amniocytes in the second fetus, and lymphocytes from the heterozygous parents. The results of this analysis showed that despite the presence of a premature termination codon (PTC) 112 nucleotides upstream of the next exon3-exon4 junction, the mutant ESCO2 mRNA was present in both fetuses, albeit at low levels, indicating a partial resistance to nonsense mediated decay (NMD). Interestingly, when cells derived from the two fetuses were treated with an inhibitor of translation, they revealed the presence of tissue and individual variability in NMD efficiency, despite the identical mutational status. The existence of such a variation in the NMD efficiency could explain the broad intrafamilial and interfamilial variability in the clinical presentation of RS patients, and in other genetic diseases where nonsense mutations are responsible for most of the mutation load. Moreover, considering that a mutated full length mRNA was produced in both fetuses, we used Western blot analysis to demonstrate the absence of the ESCO2-truncated protein in cells derived from both fetuses and in a lymphoblastoid cell line derived from the parents.
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8/15. Decreased cyclic guanosine 3',5' monophosphate and guanylate cyclase activity in leprechaunism: evidence for a postreceptor defect.

    patients with leprechaunism have hyperinsulinemia and extreme insulin resistance. The mechanism of the insulin resistance has not been delineated. To examine postreceptor events in this unusual syndrome we have assayed the enzyme guanylate cyclase [E.C.4.6.12], which is modulated by insulin, and the concentration of the intracellular messenger cyclic gmp in liver from two children with leprechaunism and extreme insulin resistance. Both patients exhibited down regulation of the red blood cell insulin receptors, but normal insulin receptor binding to Ebstein-Barr transformed IM-9 lymphocytes and monocytes. There was no evidence of antireceptor or antiinsulin antibodies. Activity of liver guanylate cyclase expressed as pmol/mg protein/10 min incubation in the soluble and particulate fractions were, respectively, Ark-1 133 /- 18, 25 /- 6; Ark-2 129 /- 17, 23 /- 8; control children (six average) 287 /- 16, 55 /- 9. The concentration of cyclic gmp was also 50% lower (0.08 /- 0.03 in Ark-1 and 0.07 /- 0.04 in Ark-2), compared to 0.19 /- 0.07 pmol/mg protein/min in the control livers. There was no change in adenylate cyclase activity in children with leprechaunism versus the control children. These data suggest an abnormality of a postreceptor event in this rare genetic disease. These data, however, do not rule out that in some cases of leprechaunism a receptor binding abnormality may be the primary defect. We speculate that a defect in insulin action distal to plasma membrane receptor binding may be etiological in this unusual syndrome.
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9/15. Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation.

    incontinentia pigmenti (IP) is a genetic disease that is usually lethal in males. We report finding an X;10 translocation in a girl with IP. Three other X/autosome translocations have been observed in females with IP: two involving chromosome 9 and one involving chromosome 17. The breakpoint in all four cases in the x chromosome was in band Xp11. The IP gene locus can therefore be confidently assigned to the x chromosome and, specifically, to band Xp11. The IP gene is most likely to subband Xp11.2. We propose that IP may prove to be a submicroscopic deletion.
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10/15. Familial occurrence of oligomeganephronia.

    Oligomeganephronia (OMN) is a rare, renal hypoplasia, consisting of a reduced number of hypertrophied nephrons. This disorder has been considered to be a congenital but not a genetic disease. We describe the first report, to the best of our knowledge, of familial cases of OMN; two male siblings ran rapidly downhill courses and died 11 and 8 days after birth, respectively. In addition, the two patients had similar multiple anomalies; microcephaly, prominent glabella, hypertelorism, antimongoloid slant, epicanthal folds, broad nose, cleft lip and palate, down-turned mouth, short philtrum, micrognathia, low set ears, hypospadias, and cryptorchism. Although the patients and the parents had normal G-banded karyotypes, 4p monosomy syndrome is suggested from clinical features. The implications of this are discussed briefly.
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