Biomaterial Database

A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.1qter). 1993

A Kleczkowska, and J P Fryns, and H van den Berghe

Centre for Human Genetics, University of Leuven, U.Z. Gasthuisberg, Belgium.

In this report the authors describe a multimalformed female newborn with terminal deletion of the long arm of chromosome 5 (q35.1qter). The multiple congenital anomaly syndrome consisted of a combination of oral, facial and digital anomalies. The present observation indicates that cytogenetic studies are needed in all patients presenting developmental delay and oro-facio-digital anomalies not consistent with the diagnosis of oro-facio-digital syndromes type I and type II.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D009958	Orofaciodigital Syndromes	Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.	Gorlin-Psaume Syndrome,Mohr Syndrome,Papillon-Leage and Psaume Syndrome,Dysplasia Linguofacialis,Oral-Facial-Digital Syndrome,Oral-Facial-Digital Syndrome, Type I,Oral-Facial-Digital Syndrome, Type II,Oro-Facio-Digital Syndrome,Orodigitofacial Dysostosis,Orodigitofacial Syndrome,Orofaciodigital Syndrome,Orofaciodigital Syndrome I,Orofaciodigital Syndrome II,Gorlin Psaume Syndrome,Oral Facial Digital Syndrome, Type I,Oral Facial Digital Syndrome, Type II,Orofaciodigital Syndrome IIs,Orofaciodigital Syndrome Is,Papillon Leage and Psaume Syndrome,Syndrome, Gorlin-Psaume,Syndrome, Mohr,Syndrome, Orofaciodigital,Syndromes, Orofaciodigital
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002895	Chromosomes, Human, Pair 5	One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).	Chromosome 5
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man