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We report on two retarded half‐sibs of different sex and seemingly normal karyotype who had the same syndrome of minor anomalies, heart defect and a distal tracheal stenosis, and who shared a healthy mother. These findings raised suspicions of a cryptic chromosome translocation. A translocation...
The psychological reactions of 22 parental couples and 3 single parents were investigated after disclosure of genetic test results of their children. The children were tested for the early‐onset, monogenetic cancer disorder multiple endocrine neoplasia type 2. Participants came from 13...
Ablepharon‐macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia, anomalous genitalia, redundant skin, and absence of lanugo. There is no agreement about cause; some authors suggest autosomal recessive...
Follow‐up and re‐evaluation of four patients originally described as examples of severe infantile “micromelic chondrodysplasia” resembling Kniest disease, “kyphomelic dysplasia,” and “Burton skeletal dysplasia” revealed the diagnosis of Schwartz‐Jampel syndrome (SJS, myotonic...
We present a mildly affected girl with de novo dup(17)(p11.2p11.2). The patient was evaluated because of minor anomalies noted during a hospitalization for nonrecurrent tonic‐clonic seizures associated with transient hypoglycemia. She also had unilateral renal hypoplasia and relative short...
We report on a Japanese family having an autosomal dominant neurodegenerative disease with chromosomal instability and radiosensitivity. Clinical manifestations of affected members included short stature, osteoporosis, severe dental caries, and various neurological abnormalities, such as mental...
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