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 There are reports of just three babies and children with a deletionbetween the Jagged1 (Alagille syndrome) gene and the centromere(Garcia-Heras !!"# $ichaelis1%%%# &ni'ue) or this reason it isdi*cult to anticipate the li+ely e,ects of a deletion from this area Therecorded deletions which are di,erent from each other are !p11-

p11. !p11 and !p111-p11.  All of these patients had pre- and post-natalgrowth failure and mild facial dysmorphism. Microcephaly, developmental delay, and hyperactivity werevariable features of this condition [reviewed in Salafsky et al., 2!". Additionally, one patient withpseudohypoparathyroidism and regional paternal isodisomy 2# has been reported [$astepe et al., 2!".

 The following are some of the clinically signi/cant features0Abnormalities in growth abies whose deleted !p comes fromtheir mother may be unusually long and large and grow into tall adultsy contrast babies whose deleted !p comes from their father may beunusually small This suggestion is supported by e2idence that children

who inherit the two chromosome !s from their mother (and none fromtheir father) ha2e had prenatal growth failure ha2e been 2ery short atbirth and continued in the smallest three per cent of the population forheight (3alafs+y !!1# 4hudoba 1%%%)Constipation 3e2ere constipation occurred in one child with a deletionbetween!p11 and !p11. 5t was caused by Hirschsprung6s disease thelac+ of ner2es in part of the bowel with absence of bowel mo2ementsso that the faeces (poo) are not pushed through to the rectum Thesame condition was seen in a child in whom this region of bothchromosome !s was inherited from the father These obser2ations

suggest that at least one normal copy of this region is needed on thechromosome ! inherited from the mother otherwise Hirschsprung6sdisease may de2elop Hirschsprung6s disease is present from birth(babies often do not pass meconium) and is corrected by surgicallyremo2ing the ner2eless segment of the bowel 7e2elopmental delay 5tis li+ely that children will show a degree of de2elopmental delay andmay need educational support 8ne child appeared to de2elopnormally until he was 1. months old but his speech later regressedAnother child was late to reach baby milestones such as sitting and/rst wal+ed at 9 months# he also showed delay in using andcontrolling his hands and was late to ac'uire and understand speech

Unusual facial features These children ha2e shown subtly unusualfacial features A % y:o boy had a short rectangular forehead a ;atmidface a short upturned nose downslanting eyes with tiny s+in foldsacross the inner corners a somewhat pouting lower lip and a forward- jutting lower jaw A newborn baby boy had mildly abnormal features -prominent occiput (bac+ of the head) sloping forehead s+in foldsacross the inner corner of both eyes a small nose with a ;at nasalbridge a left ear pit stic+ing out ears and a receding lower jaw 3oft

http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.20430/full#bib27http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.20430/full#bib1http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.20430/full#bib1http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.20430/full#bib27

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and ;eshy hands small toes and a wide gap between the big andsecond toes ha2e been describedOther medical concerns The number of babies and children with aproth cranial ner2e palsy causing double 2ision#treatment is not

usually needed but a child is monitored for signs of amblyopia (la?yeye) $ild hearing loss in the left ear at . years of age =osteriorurethral 2al2es causing a bloc+age in the tube that leads from thebladder to the penis Treatment /rst in2ol2es dealing with thesymptoms by draining urine through a catheter and then remo2ing theparts of the 2al2e that are causing the bloc+ageBehaviour 8ne child was diagnosed with autism at four years anotherwith Asperger syndrome at nine years suggesting the possibility of aspeci/c di*culty with social