Abstract
A newborn boy with complex congenital heart disease, unilateral renal agenesis, and hypocalcemia was found to have a submicroscopic deletion of 22q11.2 (DiGeorge anomaly). In evaluating the pathogenesis of the hypocalcemia, repeatedly elevated or normal levels of parathyroid hormone were found, consistent with a diagnosis of pseudohypoparathyroidism. Pseudohypoparathyroidism can be due to mutation of a GTP binding protein (Gs- α protein) located on chromosome 20. Since there is another G protein locus (Gz alpha) adjacent to the DiGeorge critical region of chromosome 22, we hypothesized that a more extensive deletion may lead to pseudohypoparathyroidism. Fluorescence in situ hybridization was performed using a probe containing the Gz alpha gene, but no deletion was detected. This patient emphasizes the importance of determining the pathogenesis of the hypocalcemia in cases of DiGeorge anomaly.
| Original language | English |
|---|---|
| Pages (from-to) | 63-65 |
| Number of pages | 3 |
| Journal | American Journal of Medical Genetics |
| Volume | 72 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Oct 3 1997 |
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Keywords
- DiGeorge anomaly
- Hypocalcemia
- Pseudohypoparathyroidism
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Deletion of chromosome 22q11 and pseudohypoparathyroidism. / Craigen, William J.; Lindsay, Elizabeth A.; Bricker, J. T.; Hawkins, Edith P.; Baldini, Antonio.
In: American Journal of Medical Genetics, Vol. 72, No. 1, 03.10.1997, p. 63-65.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Deletion of chromosome 22q11 and pseudohypoparathyroidism
AU - Craigen, William J.
AU - Lindsay, Elizabeth A.
AU - Bricker, J. T.
AU - Hawkins, Edith P.
AU - Baldini, Antonio
PY - 1997/10/3
Y1 - 1997/10/3
N2 - A newborn boy with complex congenital heart disease, unilateral renal agenesis, and hypocalcemia was found to have a submicroscopic deletion of 22q11.2 (DiGeorge anomaly). In evaluating the pathogenesis of the hypocalcemia, repeatedly elevated or normal levels of parathyroid hormone were found, consistent with a diagnosis of pseudohypoparathyroidism. Pseudohypoparathyroidism can be due to mutation of a GTP binding protein (Gs- α protein) located on chromosome 20. Since there is another G protein locus (Gz alpha) adjacent to the DiGeorge critical region of chromosome 22, we hypothesized that a more extensive deletion may lead to pseudohypoparathyroidism. Fluorescence in situ hybridization was performed using a probe containing the Gz alpha gene, but no deletion was detected. This patient emphasizes the importance of determining the pathogenesis of the hypocalcemia in cases of DiGeorge anomaly.
AB - A newborn boy with complex congenital heart disease, unilateral renal agenesis, and hypocalcemia was found to have a submicroscopic deletion of 22q11.2 (DiGeorge anomaly). In evaluating the pathogenesis of the hypocalcemia, repeatedly elevated or normal levels of parathyroid hormone were found, consistent with a diagnosis of pseudohypoparathyroidism. Pseudohypoparathyroidism can be due to mutation of a GTP binding protein (Gs- α protein) located on chromosome 20. Since there is another G protein locus (Gz alpha) adjacent to the DiGeorge critical region of chromosome 22, we hypothesized that a more extensive deletion may lead to pseudohypoparathyroidism. Fluorescence in situ hybridization was performed using a probe containing the Gz alpha gene, but no deletion was detected. This patient emphasizes the importance of determining the pathogenesis of the hypocalcemia in cases of DiGeorge anomaly.
KW - DiGeorge anomaly
KW - Hypocalcemia
KW - Pseudohypoparathyroidism
UR - http://www.scopus.com/inward/record.url?scp=0030883074&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030883074&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19971003)72:1<63::AID-AJMG13>3.0.CO;2-S
DO - 10.1002/(SICI)1096-8628(19971003)72:1<63::AID-AJMG13>3.0.CO;2-S
M3 - Article
VL - 72
SP - 63
EP - 65
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -