Short clinical report: a new case with de novo partial 9p monosomy.
A female patient is described with a karyotype 46,XX,del (9) (p22) showing characteristic dysmorphic phenotype: trigonocephaly, prominent forehead, long philtrum, small mouth, high arched palate, low set ears, short neck, widely spaced nipples, long fingers and toes, omphalocele. The first Hungarian case of 9p monosomy syndrome is reported here.
Nagy
E
E
Dept. of Human Genetics and Teratology, National Institute of Hygiene, Budapest, Hungary.
Bod
M
M
Nemeth
I
I
Timar
L
L
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D013577:Syndrome