[Monosomy r(13). Report of a new case].
We report a new case of monosomy r13 in a male newborn infant with prenatal diagnosis. He was the fourth child of a healthy couple of normal lineage. On physical examination typical dysmorphism and multiple congenital anomalies were found. Chromosome analysis revealed a 46, XY, r(13) (p11.2q32) /45, XY,13 karyotype. Our observations are almost identical to those of previously published reports and confirm that the clinical severity of the symptoms depends on the location of the chromosome breakpoint. The clinical and cytogenetics features of this disorder are reviewed.
Cuadrado Martín M
Unidad Neonatal, Hospital Universitario Miguel Servet, Zaragoza.
Boldova Aguar C
Carrasco Lorente S
Martínez Laborda S
López-Pisón
J
J
Baldellou Vázquez A
Labarta Aizpún J
Marco Tello A
Rebage Moisés V
D002882:Chromosomes, Human, Pair 13; D012734:Disorders of Sex Development / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009006:Monosomy / Q000235:genetics*