Clinical characterization of 72 patients with del(22)(q11.2q11.2) from different ethnic backgrounds

Background DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also heterogeneity of clinical signs and phenotypic appearance to be related to ethnic di...

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Published inEgyptian Journal of Medical Human Genetics Vol. 23; no. 1; pp. 1 - 8
Main Authors Méndez-Rosado, Luis A., de León-Ojeda, Norma, García, Alina, Sheth, Frenny, Gaadi, Asmaa, Bousfiha, Ahmed Aziz, Lehlimi, Mouna, Natiq, Abdelhafid, Kurinnaia, Oxana S., Vorsanova, Svetlana G., Iourov, Ivan, Huhle, Dagmar, Liehr, Thomas
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LanguageEnglish
Published Berlin/Heidelberg Springer Berlin Heidelberg 09.12.2022
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Abstract Background DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also heterogeneity of clinical signs and phenotypic appearance to be related to ethnic differences. Here, clinical characteristics of 72 patients with molecular diagnosed deletion del(22)(q11.2q11.2) derived from different countries from Europe, America, Africa, and Asia are summarized and compared. Results Unless ethnic differences, the expected major clinical signs were present in all cases. Frequent clinical manifestations found in this study were congenital heart disease with 68% (49/72), followed by dysmorphic features found in 61% (44/72); neurodevelopmental disorders were present in 43% (31/72) and thymus hypoplasia/aplasia in 32% (23/72). However, clinical features of the patients appeared/were recognized at different times during their lives. Within the group, under 2 years predominated heart disease, dysmorphic features, and hypocalcemia and/or hypoparathyroidism. In the group older than 2 years, the following combination of clinical findings was most frequent: dysmorphic features, congenital heart disease, intellectual disability, and immunological disorders. In the eight cases detected prenatally, abnormal sonographic findings were the major clinical signs (cardiovascular malformations and renal malformations). Conclusions Despite the heterogeneous nature of the sample analyzed, a number of clinical findings could be highlighted to be useful for the clinical delineation of this DGS. Interestingly, diagnostic indicators may vary depending on the age at diagnosis. Finally, apparent differences in DGS patients from different regions seem to be rather due to applied test systems than to real differences in patients from different ethnicities.
AbstractList Background DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also heterogeneity of clinical signs and phenotypic appearance to be related to ethnic differences. Here, clinical characteristics of 72 patients with molecular diagnosed deletion del(22)(q11.2q11.2) derived from different countries from Europe, America, Africa, and Asia are summarized and compared. Results Unless ethnic differences, the expected major clinical signs were present in all cases. Frequent clinical manifestations found in this study were congenital heart disease with 68% (49/72), followed by dysmorphic features found in 61% (44/72); neurodevelopmental disorders were present in 43% (31/72) and thymus hypoplasia/aplasia in 32% (23/72). However, clinical features of the patients appeared/were recognized at different times during their lives. Within the group, under 2 years predominated heart disease, dysmorphic features, and hypocalcemia and/or hypoparathyroidism. In the group older than 2 years, the following combination of clinical findings was most frequent: dysmorphic features, congenital heart disease, intellectual disability, and immunological disorders. In the eight cases detected prenatally, abnormal sonographic findings were the major clinical signs (cardiovascular malformations and renal malformations). Conclusions Despite the heterogeneous nature of the sample analyzed, a number of clinical findings could be highlighted to be useful for the clinical delineation of this DGS. Interestingly, diagnostic indicators may vary depending on the age at diagnosis. Finally, apparent differences in DGS patients from different regions seem to be rather due to applied test systems than to real differences in patients from different ethnicities.
Background DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also heterogeneity of clinical signs and phenotypic appearance to be related to ethnic differences. Here, clinical characteristics of 72 patients with molecular diagnosed deletion del(22)(q11.2q11.2) derived from different countries from Europe, America, Africa, and Asia are summarized and compared. Results Unless ethnic differences, the expected major clinical signs were present in all cases. Frequent clinical manifestations found in this study were congenital heart disease with 68% (49/72), followed by dysmorphic features found in 61% (44/72); neurodevelopmental disorders were present in 43% (31/72) and thymus hypoplasia/aplasia in 32% (23/72). However, clinical features of the patients appeared/were recognized at different times during their lives. Within the group, under 2 years predominated heart disease, dysmorphic features, and hypocalcemia and/or hypoparathyroidism. In the group older than 2 years, the following combination of clinical findings was most frequent: dysmorphic features, congenital heart disease, intellectual disability, and immunological disorders. In the eight cases detected prenatally, abnormal sonographic findings were the major clinical signs (cardiovascular malformations and renal malformations). Conclusions Despite the heterogeneous nature of the sample analyzed, a number of clinical findings could be highlighted to be useful for the clinical delineation of this DGS. Interestingly, diagnostic indicators may vary depending on the age at diagnosis. Finally, apparent differences in DGS patients from different regions seem to be rather due to applied test systems than to real differences in patients from different ethnicities.
BackgroundDiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also heterogeneity of clinical signs and phenotypic appearance to be related to ethnic differences. Here, clinical characteristics of 72 patients with molecular diagnosed deletion del(22)(q11.2q11.2) derived from different countries from Europe, America, Africa, and Asia are summarized and compared.ResultsUnless ethnic differences, the expected major clinical signs were present in all cases. Frequent clinical manifestations found in this study were congenital heart disease with 68% (49/72), followed by dysmorphic features found in 61% (44/72); neurodevelopmental disorders were present in 43% (31/72) and thymus hypoplasia/aplasia in 32% (23/72). However, clinical features of the patients appeared/were recognized at different times during their lives. Within the group, under 2 years predominated heart disease, dysmorphic features, and hypocalcemia and/or hypoparathyroidism. In the group older than 2 years, the following combination of clinical findings was most frequent: dysmorphic features, congenital heart disease, intellectual disability, and immunological disorders. In the eight cases detected prenatally, abnormal sonographic findings were the major clinical signs (cardiovascular malformations and renal malformations).ConclusionsDespite the heterogeneous nature of the sample analyzed, a number of clinical findings could be highlighted to be useful for the clinical delineation of this DGS. Interestingly, diagnostic indicators may vary depending on the age at diagnosis. Finally, apparent differences in DGS patients from different regions seem to be rather due to applied test systems than to real differences in patients from different ethnicities.
DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also heterogeneity of clinical signs and phenotypic appearance to be related to ethnic differences. Here, clinical characteristics of 72 patients with molecular diagnosed deletion del(22)(q11.2q11.2) derived from different countries from Europe, America, Africa, and Asia are summarized and compared. Unless ethnic differences, the expected major clinical signs were present in all cases. Frequent clinical manifestations found in this study were congenital heart disease with 68% (49/72), followed by dysmorphic features found in 61% (44/72); neurodevelopmental disorders were present in 43% (31/72) and thymus hypoplasia/aplasia in 32% (23/72). However, clinical features of the patients appeared/were recognized at different times during their lives. Within the group, under 2 years predominated heart disease, dysmorphic features, and hypocalcemia and/or hypoparathyroidism. In the group older than 2 years, the following combination of clinical findings was most frequent: dysmorphic features, congenital heart disease, intellectual disability, and immunological disorders. In the eight cases detected prenatally, abnormal sonographic findings were the major clinical signs (cardiovascular malformations and renal malformations). Despite the heterogeneous nature of the sample analyzed, a number of clinical findings could be highlighted to be useful for the clinical delineation of this DGS. Interestingly, diagnostic indicators may vary depending on the age at diagnosis. Finally, apparent differences in DGS patients from different regions seem to be rather due to applied test systems than to real differences in patients from different ethnicities.
Abstract Background DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also heterogeneity of clinical signs and phenotypic appearance to be related to ethnic differences. Here, clinical characteristics of 72 patients with molecular diagnosed deletion del(22)(q11.2q11.2) derived from different countries from Europe, America, Africa, and Asia are summarized and compared. Results Unless ethnic differences, the expected major clinical signs were present in all cases. Frequent clinical manifestations found in this study were congenital heart disease with 68% (49/72), followed by dysmorphic features found in 61% (44/72); neurodevelopmental disorders were present in 43% (31/72) and thymus hypoplasia/aplasia in 32% (23/72). However, clinical features of the patients appeared/were recognized at different times during their lives. Within the group, under 2 years predominated heart disease, dysmorphic features, and hypocalcemia and/or hypoparathyroidism. In the group older than 2 years, the following combination of clinical findings was most frequent: dysmorphic features, congenital heart disease, intellectual disability, and immunological disorders. In the eight cases detected prenatally, abnormal sonographic findings were the major clinical signs (cardiovascular malformations and renal malformations). Conclusions Despite the heterogeneous nature of the sample analyzed, a number of clinical findings could be highlighted to be useful for the clinical delineation of this DGS. Interestingly, diagnostic indicators may vary depending on the age at diagnosis. Finally, apparent differences in DGS patients from different regions seem to be rather due to applied test systems than to real differences in patients from different ethnicities.
Audience Professional
Academic
Author Iourov, Ivan
Sheth, Frenny
Lehlimi, Mouna
Huhle, Dagmar
Liehr, Thomas
Méndez-Rosado, Luis A.
Vorsanova, Svetlana G.
Natiq, Abdelhafid
Gaadi, Asmaa
Kurinnaia, Oxana S.
García, Alina
de León-Ojeda, Norma
Bousfiha, Ahmed Aziz
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Keywords del(q11.2q11.2)
Clinical features
DiGeorge syndrome (DGS)
Molecular diagnosis
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Snippet Background DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical...
Background DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical...
DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical...
BackgroundDiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical...
Abstract Background DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast...
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SubjectTerms Age groups
Aplasia
Cardiology
Cardiovascular disease
Clinical features
Communication
Congenital diseases
Congenital heart disease
Cultural differences
Cysts
Defects
del(q11.2q11.2)
Diagnosis
DiGeorge syndrome (DGS)
Genetic disorders
Heart
Heart diseases
Hypocalcemia
Hypoparathyroidism
Hypoplasia
Intellectual disabilities
Laboratories
Learning disabilities
Medical research
Medicine
Medicine & Public Health
Medicine, Experimental
Molecular diagnosis
Neurodevelopmental disorders
Patients
Thymic hypoplasia
Thymus gland
Ultrasonic imaging
White people
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Title Clinical characterization of 72 patients with del(22)(q11.2q11.2) from different ethnic backgrounds
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Volume 23
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