Trisomy 16q23?qter arising from a maternal t(13;16)(p12;q23): case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique

Savary, J; Vasseur, Francis; Manouvrier, Sylvie; Daudignon, Agnès; Lemaire, O.; Thieuleux, M.; Poher, M.; Lequien, P; Deminatti, M

doi:10.1007/bf00204941

Cited by 26 publications

(25 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To the best of our knowledge, trisomy 16q23-qter is the smallest so far described without associated monosomies. 22 This patient presented with hypotonia and dysmorphic features (a high forehead, a small and narrow nose with a depressed nasal bridge, and hypertelorism), only a few of which are shown by our patient. The proband carried also a paternally derived chromosome 2 benign variant , consisting in a deletion in the 2q subtelomeric region, which has been reported as the most frequent telomeric polymorphism affecting *5% of the population.…”

Section: European Journal Of Human Geneticsmentioning

confidence: 53%

Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child

et al. 2001

View full text Add to dashboard Cite

We here describe a submicroscopic translocation affecting the subtelomeric regions of chromosomes 2q and 16q, and segregating in a family with stillbirths, early pregnancy losses, and two dysmorphic and slightly retarded babies. FISH analysis showed a 46,XY,der(2)t(2;16)(q37.3;q24.3) in the propositus, and a balanced t(2;16) in his mother, her conceptus and maternal grandfather. FISH with YACs and BACs made it possible to map the 2q37 breakpoint precisely between the regions covered by y952E1 and y746H1, and the 16q breakpoint between the regions encompassed by bA 309g16 and bA 533d19. The contribution of 2q37.3 monosomy and 16q24.3 trisomy to the proband's phenotype is compared with that in reported patients with similar imbalances of either chromosome.

show abstract

Section: European Journal Of Human Geneticsmentioning

confidence: 53%

Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child

et al. 2001

View full text Add to dashboard Cite

show abstract

“…Muscular hypotonia, recurrent infections, periorbital edema, bitemporal narrowing, a broad/flat nasal bridge, and a high arched palate were seen in half of them. This emerging phenotype overlaps significantly with the better-known clinical picture of large, ''pure'' trisomies 16q (breakpoints 16q11, 16q21, and 16q23, [Savary et al, 1991]): For example, cardiac defects, muscular hypotonia, periorbital edema as well as small, upslanting palpebral fissures have been reported both in cryptic and large partial trisomies 16q. Only few features (e.g., hypertelorism) have only been reported in the larger imbalances.…”

Section: Karyotype-phenotype Correlations In Partial Trisomies 16q24mentioning

confidence: 89%

Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)

Zahn

Ehrbrecht

Bosse

et al. 2005

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We report on two cases of distal monosomy 11q and partial trisomy 16q due to a familial subtle translocation detected by FISH subtelomere screening. Exact breakpoint analyses by FISH with panels of BAC probes demonstrated a 9.3-9.5 megabase partial monosomy of 11q24.2-qter and a 4.9-5.4 megabase partial trisomy of 16q24.1-qter. The index patient displayed craniofacial dysmorphisms, mild mental retardation and postnatal growth retardation, muscular hypotonia, mild periventricular leukodystrophy, patent ductus arteriosus, thrombocytopenia, recurrent infections, inguinal hernia, cryptorchidism, pes equinovarus, and hearing deficiencies. In his mother's cousin who bears the identical unbalanced translocation, mild mental retardation, patent ductus arteriosus, hypogammaglobulinemia, recurrent infections, unilateral kidney hypoplasia, pes equinovarus, and hearing deficiencies were reported. Since only four descriptions of cryptic or subtle partial trisomies 16q have been published to date, our patients contribute greatly to the delineation of the phenotype of this genomic imbalance. In contrast to this, terminal deletions of the long arm of chromosome 11 cause a haploinsufficiency disorder (Jacobsen syndrome) in which karyotype-phenotype correlations are already being established. Here, our findings contribute to the refinement of a phenotype map for several Jacobsen syndrome features including abnormal brain imaging, renal malformations, thrombocytopenia/pancytopenia, inguinal hernia, testicular ectopy, pes equinovarus, and hearing deficiency.

show abstract

“…Children who have survived after this age are considered to have a good life expectancy [Ono et al, 1996]. Pure 16q trisomy can be an early death cause; main features include a low birth weight, failure to thrive, hypotonia, intellectual disability, congenital heart disease, urogenital and anal anomalies, limb anomalies and joint contractures, facial dysmorphism with a high prominent forehead, downslanting and small palpebral fissures, hypertelorism, periorbital edema, low-set and abnormal ears, prominent nose, micrognathia [Savary et al, 1991;Masuno et al, 2000;Brisset et al, 2002;Chen et al, 2004].…”

Section: Discussionmentioning

confidence: 99%

Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: Molecular characterization of two der(11)t(11;16)

Basinko

Audebert‐Bellanger

Douet‐Guilbert

et al. 2011

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We report here three children with a der(11)t(11;16), two sibs (patients 1 and 2) having inherited a recombinant chromosome from a maternal t(11;16)(q24.3;q23.2) and a third unrelated child with a de novo der(11)t(11;16)(q25;q22.1), leading to partial monosomy 11q and trisomy 16q. Fluorescent in situ hybridization (FISH) using bacterial artificial chromosome (BAC) clones and array-CGH were performed to determine the breakpoints involved in the familial and the de novo rearrangements. The partial 11 monosomy extended from 11q24.3 to 11qter and measured 6.17-6.21 Mb in Patients 1 and 2 while the size of the partial 11q25->qter monosomy was estimated at 1.97-2.11 Mb for Patient 3. The partial 16 trisomy extended from 16q23.2 to 16qter and measured 8.93-8.95 Mb in Patients 1 and 2 while the size of the partial 16q22.1->qter trisomy was 20.82 Mb for Patient 3. Intraventricular hemorrhage and transitional thrombocytopenia were found in both sibs but not in the third patient. The FLI1 gene, which is the most relevant gene for thrombocytopenia in Jacobsen syndrome, was neither deleted in family A nor in Patient 3. We suggest that a positional effect could affect the FLI1 expression for these two sibs. Deafness of our three patients confirmed the association of this anomaly to 11q monosomy and tended to confirm the hypothetic role of DFNB20 in Jacobsen syndrome hearing loss. Both sibs shared most of the features commonly observed in Jacobsen syndrome, but not the third patient. This confirmed that terminal 11q trisomy spanning 1 to 1.97-2.11 Mb is not associated with a typical Jacobsen syndrome.

show abstract

Trisomy 16q23?qter arising from a maternal t(13;16)(p12;q23): case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique

Cited by 26 publications

References 14 publications

Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child

Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child

Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)

Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: Molecular characterization of two der(11)t(11;16)

Contact Info

Product

Resources

About