De novo deletion of chromosome 18q in a baby with harlequin ichthyosis

American Journal of Medical Genetics

Volumn 102, Issue 4, 2001, Pages 342-345

  Stewart, H ^a   Smith, P T ^b   Gaunt, L ^c   Moore, L ^d   Tarpey, P ^b   Andrew, S ^e   Dady, I ^a   Rifkin, R ^b   Clayton Smith, J ^c  

^a CHURCHILL HOSPITAL   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^d HOPE HOSPITAL   (United Kingdom)

^e FURNESS GENERAL HOSPITAL   (United Kingdom)

Author keywords

Chromosome 18q; Harlequin ichthyosis

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 18Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; GENE LOCATION; HARLEQUIN ICHTHYOSIS; HUMAN; HUMAN CELL; KARYOTYPING; KERATINIZATION; MALE; NEWBORN; PRIORITY JOURNAL; SKIN DISEASE;

CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 18; GESTATIONAL AGE; HUMANS; ICHTHYOSIS, LAMELLAR; INFANT, NEWBORN; INFANT, PREMATURE; KARYOTYPING; MALE; MICROSCOPY, ELECTRON; SKIN;

EID: 0035451211     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1506     Document Type: Article

References (17)

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2. The human tissue transglutaminase gene maps on chromosome 20q12 by in situ fluorescence hybridization
3. A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma
4. Electron microscopic studies of Harlequin Fetuses
5. Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster
6. Genotype/ phenotype correlation in autosomal recessive lamellar ichthyosis
7. Structure and organization of the human transglutaminase 1 gene
8. Progress of a Harlequin fetus to a nonbullous ichthyosiform erythroderma
9. Autosomal recessive lamellar ichthyosis: Identification of a new mutation in transglutaminase 1 and evidence of genetic heterogeneity
10. Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q
11. Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q
12. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
13. Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene
14. Analysis of clinical variation seen in patients with 18q terminal deletions
15. Harlequin ichthyosis (ichq): A juvenile lethal mouse mutation with ichthyosiform dermatitis
16. Harlequin fetus in four siblings
17. Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion