Atıf İçin Kopyala
Karaguzel G., Akcurin S., Yakut S., Bircan I.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.19, sa.5, ss.761-764, 2006 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
19
Sayı:
5
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Basım Tarihi:
2006
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Doi Numarası:
10.1515/jpem.2006.19.5.761
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Dergi Adı:
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.761-764
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Anahtar Kelimeler:
chromosome 22q11 deletion syndrome, precocious puberty, psychiatric disorder, hypoparathyroidism, CARDIO-FACIAL SYNDROME, PSEUDOHYPOPARATHYROIDISM, DIGEORGE
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Akdeniz Üniversitesi Adresli:
Evet
Özet
Deletions of chromosome 22q11 cause a wide range of phenotypes; even affected members from the same family may present with different phenotype. We present an 11-3/12 year-old boy who has 22q11 deletion in a hitherto unreported combination with psychiatric disorder, hypoparathyroidism and precocious puberty. Whether precocious puberty is a clue for chromosome 22q11 deletion syndrome is also discussed.