Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes. 1985

G N Wilson, and S E Sauder, and M Bush, and I Z Beitins

A male child with features of the Russell-Silver syndrome, including pre- and postnatal growth delay, triangular facies, bilateral fifth finger clinodactyly, and disproportionate lower extremities, was found to have a ring chromosome 15 in all peripheral leucocytes examined. Review of the reported cases of ring chromosome 15 defines a malformation syndrome with a characteristic facies related to deletion of the 15q26.2----qter region. Russell-Silver and ring 15 syndromes share clinical features such as growth deficiency, triangular facies, digital anomalies, and café-au-lait spots. Microcephaly, mental retardation, facial dysmorphology, limb anomalies, and cardiac defects are more striking in ring chromosome 15 patients and are indications for karyotyping when found in conjunction with the Russell-Silver phenotype.

UI MeSH Term Description Entries
D008297 Male Males
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002901 Chromosomes, Human, 13-15 The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15. Chromosomes D,Group D Chromosomes,Chromosome, Group D,Chromosomes, Group D,Group D Chromosome
D004392 Dwarfism A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. Nanism
D005145 Face The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw. Faces
D005260 Female Females
D005317 Fetal Growth Retardation Failure of a FETUS to attain expected GROWTH. Growth Retardation, Intrauterine,Intrauterine Growth Retardation,Fetal Growth Restriction,Intrauterine Growth Restriction
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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