PubMed · 10607964
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M Bamshad, L B Jorde, J C Carey. 2000-01-17. Getting a LEAD on EEC.. https://doi.org/10.1002/(sici)1096-8628(20000117)90%3A2%3C183%3A%3Aaid-ajmg22%3E3.0.co%3B2-%23
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With the use of advanced molecular cytogenetic techniques, we have identified an extra ring chromosome consisting of the entire short arm of chromosome 10 (10p) in a 9-month-old girl with multiple congenital anomalies. This case represents another cytogenetic mechanism leading to the formation of pure complete trisomy 10p, which has not been reported previously. Pure trisomy 10p is rare. This case will further delineate those features associated with trisomy 10p.
We report a patient with a syndrome of MR/MCA who was the product of a highly consanguineous family. The patient was the result of a union between a man and his daughter. The daughter was in turn the product of a mating between this same man and his mother. Major findings include: severe psychomotor and mental retardation, microcephaly with cerebral dysgenesis and cerebellar hypoplasia, early hypotonia and late hypertonia, short stature, early swallowing incoordination with aspiration pneumonias, distinctive face with striking hypertelorism, hypospadias, cryptorchidism, overlapping fingers, and rocker-bottom feet. Chromosome and metabolic studies were normal. The severity and uniqueness of his phenotype suggests a new, probably private, autosomal recessive disorder due to homozygosity for one or more loci.
The VACTERL complex comprises renal agenesis and atresias of the alimentary and respiratory tracts. We report on a case with this combination causing severe oligohydramnios but with normal lung development. The likely protective mechanism for pulmonary development was an increase in alveolar pressure and reduced alveolar fluid loss due to the esophageal-tracheal malformation. This suggests the possible treatment of oligohydramnios by tracheal occlusion.