Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An update

Abstract

A father and his 2 daughters were previously determined to carry a small, supernumerary marker chromosome [Chudley et al., 1983]. The origin of this marker could not be determined by standard cytogenetic techniques. In this study, fluorescence in situ hybridization (FISH) studies identified the marker chromosome as a pericentric derivative of chromosome 8. The father has low grade mosaicism for this marker and is phenotypically normal. Both daughters are non-mosaic and show developmental delays and somewhat differing clinical findings. The phenotypes of the 2 sisters are compared with those previously reported for supernumerary der(8) patients. This is the first report of familial transmission of a supernumerary der(8) marker chromosome.

Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder

“…Six of the nine cases displayed varying degrees of cognitive impairment and developmental delay with no physical malformations. However, cases 3, 4, and 9 were reported with both cognitive delay and physical findings including polydactyly (case 3), dysmorphic facial features (case 4), overgrowth syndrome, scoliosis, single palmar crease, umbilical hernia, and deafness (case 9) . Only case 7 was found to display the same phenotypic features noted in our case including developmental delay, ASD, and hypotonia .…”

Genomic characterization of chromosome 8 pericentric trisomy

“…Of the thirty patients reviewed, seven were nonmosaic. The associated phenotypes range from normal (14,15,18,34,36,37) to anomalies consistent with trisomy 8 syndrome. Trisomy of the entire human chromosome 8 has been associated clinically with prominent forehead, hypertelorism, deep-set eyes, low set cupped ears, micrognathia, a broad nasal root, limb defects, urogenital disease, congenital heart disease, Rieger malformation [6,7], and absence of the corpus callosum [8][9][10][11][12][13].…”

“…In addition, cryptorchidism and deep longitudinal plantar or palmar skin furrows were observed. Psychomotor retardation was usually mild to moderate and affected most severely expressive language skills [17][18][19][20][21].…”

Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8

“…NOR-and CBG-staining, 24-colour FISH with chromosome specific painting probes, three-colour FISH using centromeric probes for all human chromosomes and microsatellite analyses have been used to clarify the origin of this minute marker and its mosaic status and to extrapolate its clinical significance. This is the first case described with such a minute SMC derived from chromosome 8 diagnosed prenatally, the third case with such a minute SMC derived from chromosome 8, the fifteenth case reporting on a SMC originating from chromosome 8 and the third such case without severe clinical features (Spinner et al, 1995;Schröck et al, 1997;Gravholt and Friedrich, 1995;Sasagawa et al, 1995;Rothenmund et al, 1997;Crolla, 1998). For details see Table 2.…”

“…small SMC were ring chromosomes (Plattner et al, 1993;Melnyk and Dewald, 1994;Daniel et al, 1994;Blennow et al, 1993;Butler et al, 1995;Hastings et al, 1999), submetacentric chromosomes (Ohashi et al, 1994;Rothenmund et al, 1997) or chromosomes derived from chromosome 8 with substantial parts of euchromatic material but without clear data on the morphology of the marker (Gravholt and Friedrich, 1995;Schrö ck et al, 1997). For the two other cases with a similar minute SMC (Spinner et al, 1995;Sasagawa et al, 1995) no information is available as to whether whole chromosome painting gave signals.…”