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M Craen - One of the best experts on this subject based on the ideXlab platform.

  • a new chromosome Deletion Syndrome report of a patient with a 46 xy 8p chromosome constitution
    Clinical Genetics, 2008
    Co-Authors: E Orye, M Craen
    Abstract:

    A mentally retarded boy with narrow cranium, high forehead, epicanthic folds, flat nasal bridge, low-set but normal ears, retrognathy, short neck and broad chest with wide-set nipples is described. The routine chromosome and banding analyses revealed a 46,XY,8p- chromosome constitution. The parents had normal chromosomes. On the basis of measurements on reflectodensitometer tracings and of measurements of the individual G-bands directly on photographic prints of the normal and abnormal chromosome 8, an intercalary Deletion of band p22 seemed most probable. The clinical features of the patient are compared with the 8p- case of Lubs & Lubs (1973) as well as with four other cases of short arm Deletion of an unidentified C-autosome. The clinical features of one of these cases were very similar to those of the boy described. An attempt was made to delineate the clinical characteristics of this new Chromosomal Deletion Syndrome.

G Acs - One of the best experts on this subject based on the ideXlab platform.

  • a constellation of dental anomalies in a Chromosomal Deletion Syndrome 7q32 case report
    Pediatric Dentistry, 1994
    Co-Authors: P Pokala, G Acs
    Abstract:

    A case is reported of a patient with Deletion of the long arm of chromosome 7 at a highly specific locus (7q32). In addition significant craniofacial stigmata and global developmental delay, the patient presented with numerous clinical and radiographic dental anomalies observed over a lO-year period. Hypodontia, accessory roots, dens invaginatus, hypoplastic enamel, and numerous pulpal anomalies all were noted. Some of these dental findings suggest trichodentoosseous Syndrome (TDO), although the other stigmata do not. The wide variety of dental findings in this patient may help to define the role of chromosome 7q32 in dental development. (Pediatr Dent 16:306-9, 1994)

Ignatia B. Van Den Veyver - One of the best experts on this subject based on the ideXlab platform.

  • Chromosome 4p Deletion Syndrome (Wolf-Hirschhorn Syndrome)
    Obstetric Imaging: Fetal Diagnosis and Care, 2018
    Co-Authors: Wesley Lee, Ignatia B. Van Den Veyver
    Abstract:

    Abstract First clinically described in 1961 by Hirschhorn and subsequently in 1965 by Wolf, the 4p Deletion Syndrome, or Wolf-Hirschhorn Syndrome (WHS), is the first example of a classic human Chromosomal Deletion Syndrome. This rare condition, characterized by severe prenatal onset growth restriction, typical facial features, and severe seizures, is well described in the pediatric literature. Accounts of its prenatal presentation and diagnosis based on ultrasound findings and confirmatory genetic testing are more limited and consist of isolated case reports and small case series. Although more than 50% of Deletions are visible by standard karyotyping, use of fluorescence in situ hybridization (FISH) and the now recommended array-based copy-number analysis or Chromosomal microarray analysis (CMA) have improved the diagnosis of chromosome 4p Deletions that cause WHS. Recently, noninvasive prenatal screening for microDeletion Syndromes on cell-free fetal DNA (cffDNA) in maternal plasma has been developed and is being introduced in the clinic. This has widened the prenatal ascertainment for 4p Deletion Syndrome to a broader screen for potentially affected fetuses even in the absence of sonographic findings. Hence, practitioners should be familiar with the features of WHS Syndrome that are detectable by prenatal imaging and those that are not prenatally observable, its prognosis, and the implications for perinatal management and counseling when a 4p Deletion is detected prenatally.

E Orye - One of the best experts on this subject based on the ideXlab platform.

  • a new chromosome Deletion Syndrome report of a patient with a 46 xy 8p chromosome constitution
    Clinical Genetics, 2008
    Co-Authors: E Orye, M Craen
    Abstract:

    A mentally retarded boy with narrow cranium, high forehead, epicanthic folds, flat nasal bridge, low-set but normal ears, retrognathy, short neck and broad chest with wide-set nipples is described. The routine chromosome and banding analyses revealed a 46,XY,8p- chromosome constitution. The parents had normal chromosomes. On the basis of measurements on reflectodensitometer tracings and of measurements of the individual G-bands directly on photographic prints of the normal and abnormal chromosome 8, an intercalary Deletion of band p22 seemed most probable. The clinical features of the patient are compared with the 8p- case of Lubs & Lubs (1973) as well as with four other cases of short arm Deletion of an unidentified C-autosome. The clinical features of one of these cases were very similar to those of the boy described. An attempt was made to delineate the clinical characteristics of this new Chromosomal Deletion Syndrome.

Joan Overhauser - One of the best experts on this subject based on the ideXlab platform.

  • a yeast artificial chromosome contig of the critical region for cri du chat Syndrome
    Genomics, 1994
    Co-Authors: Sheryl A Goodart, Michael Lovett, Andrew Simmons, Deborah L Grady, Katherine Rojas, Robert K Moyzis, Joan Overhauser
    Abstract:

    Cri-du-chat is a Chromosomal Deletion Syndrome characterized by partial Deletion of the short arm of chromosome 5. The clinical symptoms include growth and mental retardation, microcephaly, hypertelorism, epicanthal folds, hypotonia, and a high-pitched monochromatic cry that is usually considered diagnostic for the Syndrome. Recently, a correlation between clinical features and the extent of the chromosome 5 Deletions has identified two regions of the short arm that appear to be critical for the abnormal development manifested in this Syndrome. Loss of a small region in 5p15.2 correlates with all of the clinical features of cri-du-chat with the exception of the cat-like cry, which maps to 5p15.3. Here we report the construction of a YAC contig that spans the Chromosomal region in 5p15.2 that plays a major role in the etiology of the cri-du-chat Syndrome. YACs that span the 2-Mb cri-du-chat critical region have been identified and characterized. This YAC contig lays the groundwork for the construction of a transcriptional map of this region and the eventual identification of genes involved in the clinical features associated with the cri-du-chat Syndrome. It also provides a new diagnostic tool for cri-du-chat in the shape of a YAC clone that may span the entire critical region.