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    Abnormalities in Growth Babies Whose Deleted 20p Comes From

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    luck2liv
    This document summarizes the reported effects of deletions near the centromere of chromosome 20 in three babies and children. Key features included prenatal and postnatal growth failure, mild facial dysmorphism, and variable developmental delay, microcephaly, and hyperactivity. Additionally, one patient was reported with pseudohypoparathyroidism and regional isodisomy 20q. Specific abnormalities noted include unusual growth patterns related to parental origin of the deletion, constipation and Hirschsprung's disease, developmental delays, and unusual facial features. Behavioral issues such as autism and Asperger syndrome were also reported in two patients.

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    Abnormalities in Growth Babies Whose Deleted 20p Comes From

    Uploaded by

    luck2liv
    24 views2 pages
    This document summarizes the reported effects of deletions near the centromere of chromosome 20 in three babies and children. Key features included prenatal and postnatal growth failure, mild facial dysmorphism, and variable developmental delay, microcephaly, and hyperactivity. Additionally, one patient was reported with pseudohypoparathyroidism and regional isodisomy 20q. Specific abnormalities noted include unusual growth patterns related to parental origin of the deletion, constipation and Hirschsprung's disease, developmental delays, and unusual facial features. Behavioral issues such as autism and Asperger syndrome were also reported in two patients.

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    chromosome 20 deletion

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    Chr20del

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    This document summarizes the reported effects of deletions near the centromere of chromosome 20 in three babies and children. Key features included prenatal and postnatal growth failure, mild facial dysmorphism, and variable developmental delay, microcephaly, and hyperactivity. Additionally, one patient was reported with pseudohypoparathyroidism and regional isodisomy 20q. Specific abnormalities noted include unusual growth patterns related to parental origin of the deletion, constipation and Hirschsprung's disease, developmental delays, and unusual facial features. Behavioral issues such as autism and Asperger syndrome were also reported in two patients.

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    Download as docx, pdf, or txt
    24 views2 pages

    Abnormalities in Growth Babies Whose Deleted 20p Comes From

    Uploaded by

    luck2liv
    This document summarizes the reported effects of deletions near the centromere of chromosome 20 in three babies and children. Key features included prenatal and postnatal growth failure, mild facial dysmorphism, and variable developmental delay, microcephaly, and hyperactivity. Additionally, one patient was reported with pseudohypoparathyroidism and regional isodisomy 20q. Specific abnormalities noted include unusual growth patterns related to parental origin of the deletion, constipation and Hirschsprung's disease, developmental delays, and unusual facial features. Behavioral issues such as autism and Asperger syndrome were also reported in two patients.

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    There are reports of just three babies and children with a deletion

    between the Jagged1 (Alagille syndrome) gene and the centromere


    (Garcia-Heras 2005; Michaelis1999; Unique). For this reason it is
    difficult to anticipate the likely effects of a deletion from this area. The
    recorded deletions, which are different from each other, are 20p11.22p11.23, 20p11.2, and 20p11.21-p11.23. All of these patients had pre- and post-natal
    growth failure and mild facial dysmorphism. Microcephaly, developmental delay, and hyperactivity were
    variable features of this condition [reviewed in Salafsky et al., 2001]. Additionally, one patient with
    pseudohypoparathyroidism and regional paternal isodisomy 20q has been reported [Bastepe et al., 2001].

    The following are some of the clinically significant features:


    Abnormalities in growth Babies whose deleted 20p comes from
    their mother may be unusually long and large and grow into tall adults.
    By contrast, babies whose deleted 20p comes from their father may be
    unusually small. This suggestion is supported by evidence that children
    who inherit the two chromosome 20s from their mother (and none from
    their father) have had prenatal growth failure, have been very short at
    birth and continued in the smallest three per cent of the population for
    height (Salafsky 2001; Chudoba 1999).
    Constipation Severe constipation occurred in one child with a deletion
    between
    20p11.22 and 20p11.23. It was caused by Hirschsprungs disease, the
    lack of nerves in part of the bowel, with absence of bowel movements
    so that the faeces (poo) are not pushed through to the rectum. The
    same condition was seen in a child in whom this region of both
    chromosome 20s was inherited from the father. These observations
    suggest that at least one normal copy of this region is needed on the
    chromosome 20 inherited from the mother, otherwise Hirschsprungs
    disease may develop. Hirschsprungs disease is present from birth
    (babies often do not pass meconium) and is corrected by surgically
    removing the nerveless segment of the bowel. Developmental delay It
    is likely that children will show a degree of developmental delay and
    may need educational support. One child appeared to develop
    normally until he was 13 months old, but his speech later regressed.
    Another child was late to reach baby milestones such as sitting and
    first walked at 26 months; he also showed delay in using and
    controlling his hands and was late to acquire and understand speech.
    Unusual facial features These children have shown subtly unusual
    facial features. A 9 y/o boy had a short rectangular forehead, a flat
    midface, a short upturned nose, downslanting eyes with tiny skin folds
    across the inner corners, a somewhat pouting lower lip and a forwardjutting lower jaw. A newborn baby boy had mildly abnormal features prominent occiput (back of the head), sloping forehead, skin folds
    across the inner corner of both eyes, a small nose with a flat nasal
    bridge, a left ear pit, sticking out ears and a receding lower jaw. Soft

    and fleshy hands, small toes and a wide gap between the big and
    second toes have been described.
    Other medical concerns The number of babies and children with a
    proximal 20p
    deletion is too small to establish a consistent pattern of medical
    concerns. The
    disorders listed here have affected one baby or child only.
    Panhypopituitarism, the
    deficiency of all the hormones normally released by the front part of
    the pituitary gland.
    These hormones regulate many of the bodys natural endocrine
    processes including
    stress, growth and reproduction. Treatment is by a paediatric
    endocrinologist.
    Congenital (at birth) 4th cranial nerve palsy causing double vision;
    treatment is not
    usually needed, but a child is monitored for signs of amblyopia (lazy
    eye). Mild hearing loss in the left ear at 3 years of age. Posterior
    urethral valves causing a blockage in the tube that leads from the
    bladder to the penis. Treatment first involves dealing with the
    symptoms by draining urine through a catheter and then removing the
    parts of the valve that are causing the blockage.
    Behaviour One child was diagnosed with autism at four years, another
    with Asperger syndrome at nine years, suggesting the possibility of a
    specific difficulty with social

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