Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).

Faed, M. J. W.; Robertson, Janet; Beck, John S.; Cater, J. I.; Bose, Baundauna; Madlom, M M

doi:10.1136/jmg.24.4.225

Cited by 28 publications

(13 citation statements)

References 9 publications

(1 reference statement)

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“…reported an association between DiGeorge syndrome and a deletion in chromosome 22. Subsequently other reports of a similar association have been published (Kelley et al, 1982;Greenberg et al, 1984;Pong et al, 1985;Schwanitz and Zerres, 1987;Faed et al, 1987). Using high-resolution banding analysis, we report a patient with incomplete DiGeorge syndrome, who showed a deletion of 22ql 1.1 band.…”

Section: Introductionsupporting

confidence: 69%

A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation

et al. 1989

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Section: Introductionsupporting

confidence: 69%

A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation

et al. 1989

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“…To date, several translocations involving chromosome 22q11 have been reported; t(3;22)(p25;q11), t(15;22)(p11.2;q11.2), t(11;22)(q23;q11), t(17;22)(q11;q11), t(4;22)(q35;q11), t(1;22)-(p21;q11), t(8;22)(q24.13;q11.21), t(X;22) [Faed et al, 1987;Jaquez et al, 1997;Kehrer-Sawatzki et al, 1997;Kurahashi et al, 2000Kurahashi et al, , 2003Edelmann et al, 2001;Tapia-Paez et al, 2001;Debeer et al, 2002;Nimmakayalu et al, 2003;Gotter et al, 2004Gotter et al, , 2007. The translocations t(11;22), t(17;22), t(4;22), t(1;22), t(8;22) are mediated by palindromic sequence.…”

Section: Discussionmentioning

confidence: 99%

Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome

Dündar

Kiraz

Taşdemir

et al. 2010

American J of Med Genetics Pt A

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This report describes a 25-day-old Turkish boy with unbalanced 3;22 translocation that includes the 22q11.2 deletion and 3p25 deletion syndrome. The karyotype was 45, XY,der(3)t(3;22)(p25;q11),-22. Although no immunological dysfunction could be demonstrated, the boy presented some manifestations of DiGeorge anomaly (DGA), which has been associated with monosomy for the same region of chromosome 22, velocardiofacial syndrome (VCFS), and the 3p deletion syndrome. Clinical features include short stature, hypertelorism, low set ears, cleft lip with cleft palate, short neck, truncus arteriosus, micropenis, clubfoot, over riding toes on right foot, four digits on left foot and growth delay. In addition he had feeding difficulties, respiratory infections, and developmental delay. Fluorescence in situ hybridization (FISH) studies confirmed loss of the proximal DiGeorge chromosomal region (DGCR). Array CGH analysis showed the deletion sites on chromosomes 3 and 22. This report documents a rare chromosomal aberration that causes the 22q11 and 3p deletion syndrome simultaneously.

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“…In our patient, the deletion could be either the result of manipulation or a sporadic event not directly related to IVF. Unbalanced translocations involving monosomy 22pterq11 in a 45 chromosome constitution have been described in association with 22q11.2 deletion [Back et al, 1980;Kelley et al, 1982;Faed et al, 1987;Jancar and Karki, 1989;Reddy et al, 1996;Jaquez et al, 1997;Carratalá et al, 1998;Damatova et al, 2009;Dundar al., 2009;McGoey and Lacassie, 2009;Shuib et al, 2009;Zrnová et al, 2012;Hu et al, 2014], none of these with a proven LCR 22q11.2 breakpoint. Our patient showed a breakpoint within the LCR-B, which has AT-rich palindromic sequences frequently involved in constitutional translocations, such as in the recurrent translocation t(11; 22) (q23;q11.2) [Gotter et al, 2004;Kato et al, 2012].…”

Section: Discussionmentioning

confidence: 99%

22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization

et al. 2015

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We report on a patient conceived via in vitro fertilization (IVF) with a 22q11.2 deletion due to an unusual unbalanced translocation involving chromosomes 6 and 22 in a karyotype with 45 chromosomes. Cytogenomic studies showed that the patient has a 3.3-Mb deletion of chromosome 22q and a 0.4-Mb deletion of chromosome 6p, which resulted in haploinsufficiency of the genes responsible for the 22q11.2 deletion syndrome and also of the <i>IRF4</i> gene, a member of the interferon regulatory factor family of transcription factors, which is expressed in the immune system cells. The rearrangement could be due to the manipulation of the embryo or as a sporadic event unrelated to IVF. Translocation involving chromosome 22 in a karyotype with 45 chromosomes is a rare event, with no previous reports involving chromosomes 6p and 22q.

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Features of di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11).

Cited by 28 publications

References 9 publications

A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation

A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation

Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome

22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization

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