Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata

An interstitial deletion in Xp22.3 in a

An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature

✍ Christine Petit; Judith Melki; Jacqueline Levilliers; Françoise Serville; Jean W 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 783 KB

In a four-generation family, chondrodysplasia punctata was found in a boy and one of his maternal uncles. These two patients also have short stature, as do all female members of the family, DNA molecular analysis of the pseudoautosomal and Xp22.3-specific loci revealed the presence of an interstitia