PubMed · 4172765
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I J Olshin. 1968. Problems in growth.. https://doi.org/10.1016/s0031-3955(16)32132-0
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We report the molecular characterization of a ring X chromosome that was transmitted from a mother to a male who has short stature and minor dysmorphic features. This represents only the second reported ring X chromosome in a male. The ring is derived from breakage within the Xp pseudoautosomal region (PAR) and just proximal to the Xq PAR. The total amount of deleted material is 700-900 kb DNA and includes six known transcribed genes. Interestingly, SHOX, a gene implicated in short stature, is not deleted from the ring chromosome. Possible pathogenetic explanations for the patient's clinical features include insufficient dosage of deleted genes, a position effect on SHOX expression, and cell death during development because of ring chromosome nondisjunction. The findings are also relevant to observations made of "complete" ring chromosomes.
The growth of children is an important health indicator. In the individual child, growth mirrors health or illness. At the child population level, growth may be used to monitor living conditions. Continued deviations may indicate somatic disorders or psychosocial problems. The assessment of the growth of an individual child is complicated due to the difficulty to measure children. Thus, the height of the child will have to deviate substantially from that of the reference population before action is called for. The progress over time of the child's growth, on the other hand, is a much more sensitive indicator of ill health than is the height of the child at a certain age. Systematic assessment of each measuring may serve as an aid to detect abnormal growth and thereby facilitate a correct diagnosis.