Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Table 1

Karyotype and phenotype comparison among cases with recombinant chromosome 4.

	Ogle et al., 1996 [3]	Dufke et al., 2000 [4]	Mun et al., 2010 [5]	Present cases
Karyotype	46,XX,rec(4)dup(4q)inv(4) (p15.32q35)mat	46,XX,rec(4)dup(4q)inv(4) (p16.2q35.1)pat	46,XX,rec(4)dup(4q)inv(4); (p16q31.3)pat	46,XX,rec(4)dup(4q)inv(4); (p16.3q35.2)mat
Prenatal phenotype	ND	ND	Pleural effusion and polyhydramnios	Growth retardation, facial dysmorphisms (hypertelorism, prominent eyes, low-set ears, beaked nose, and mild micrognathia), absence of major external or internal malformations
Adulthood phenotype	Wolf-Hirschhorn Syndrome, left hemiplegia, epilepsy, atrophy of the right cerebral hemisphere, dilatation of the right ventricle, small ventricular septal defect, and no speech	Wolf-Hirschhorn Syndrome	No malformation or dysfunction, preauricular skin tag	Facial dysmorphisms, hypotonia, PMD (indipendent walk at 24 months), MR, seizures, pre- and post-natal developmental delay, myopia, lip and tongue tie, malocclusion of teeth, cryptorchidism, social behavior, and frequent respiratory infections

ND: not done.