THECIESLIKOSKIFAMILY

NeelaandThomasCieslikoskiareahealthy,nonconsanguineouscoupleofPolishdescent.
Mrs.Cieslikoskiis30yearsold,andthisisherfirstpregnancy.Sheiscurrently10weeks
pregnantwithDaniel.

Giventhefamilyhistoryofbiotinidasedeficiency,aswellasthepresenceofchildrenwith
multipleabnormalitiesandseveredevelopmentaldelaythatdiedsoonafterbirth,Mrs.
Cieslikoskisdoctorhasrecommendedthatchorionicvillussamplingbeperformedtoruleout
anystructuralchromosomeabnormalities.

Mr.Cieslikoskiis28yearsoldandstruggleswithbiotinidasedeficiency.Hehas:
Twobrothers,ages26and35.
The26yearoldishealthyandhasahealthy3yearolddaughter.
The31yearoldishealthyandhastwosonsages7and5.The5yearoldisill.
Mr.Cieslikoskismotheris54yearsold,andshehasbeendiagnosedwithbiotinidasedeficiency
Shehas:
Twosisterswhoareintheirlate50stoearly60s.Theyareingoodhealthfor
theirage.
Mr.Cieslikoskisfatheris55yearsoldandingoodhealth.Hehas:
Onehealthybrotheraged60

Mrs.Cieslikoskireportsthatageneticproblemexistsinherfamily.Sheremembersbeingtold
thatshewastestedforthisfamilyproblemwhenshewasalittlegirlandeventhoughshes
perfectlyhealthy,somethingiswrongwithhergeneticinformation.Mrs.Cieslikoskidoesnot
haveanymedicaldocumentationofhertestresultsandsheexplainedthatherfamilydoesnt
discussthismatteratall.Shereportsthat:
Twosisterswerebornwithbiotinidasedeficiencyanddiedshortlyafterbirth.
Herolder30yearoldbrotherishealthyandhasonehealthy3yearoldson.
Mrs.Cieslikoskismotherdiedlastyearfrompneumonia.Shewas55yearsold.Shehas:
Onelivingbrother(57yearsold).
Mrs.Cieslikoskisfatheris57yearsoldandhealthy.

THEVITALEFAMILY

CalvinandCheriseVitaleareahealthynonconsanguineouscoupleofItalianancestry.Mrs.
Vitaleis33yearsold,andiscurrently9weekspregnantwithKari.Giventheirprevious
pregnancyhistory,theyareveryconcernedaboutthehealthoftheirfetus.Theyrequestedthat
chorionicvillussamplingbeperformedtoruleoutanyfetalchromosomalabnormalities.

Mrs.Vitaleis33yearsold,andshesuffersfromcongenitaladrenalhyperplasia,forwhichshe
requiresmedications.Mrs.Vitalereportsthatshewasadopted,andshehasnohistoryabout
herbiologicalparents.
Thisisthecouplesfourthpregnancytogethertheyhavea3yearolddaughterwho
wasbornwithoutcongenitaladrenalhyperplasia.

Mr.Vitaleisahealthy,35yearoldman,andhehasahealthy10yearolddaughterfroma
previousmarriage.Mr.Jacksonhasidenticaltwinbrotherswhoare32yearsold.

Mr.Vitalesmotheris67yearsoldandshesuffersfromcongenitaladrenalhyperplasia.
Shehastwobrothers.Hertwobrothers(aged70and72)alsohavecongenitaladrenal
hyperplasia.
Theeldestbrotherhastwohealthydaughtersintheir50s.
Herotherbrotherhadasonthathadcongenitaladrenalhyperplasiaanddied
fromcomplicationsofthediseasewhenhewas14yearsold.
Mr.Vitalesfatherisdeceasedhepassedawayofcomplicationsfromamassivestrokewhen
hewas66yearsold.Hewasanonlychild.

THETHEEKEFAMILY

RosaandJuanTheekeareahealthynonconsanguineouscouplefromEcuador.Mrs.Theekeis23yearsold
andiscurrently20weeks(5months)pregnantwithJohnny.

Afewweeksago,whenshewas15weekspregnant,Mrs.Theekeoptedtohaveaprenatalscreeningtest
performedonherblood.Ascreeningtestisnotdiagnosticitcanonlysuggestastatisticalpossibilitythata
problemmayexist.

Mrs.Theekesscreeningresultsindicatedanincreasedchancethatherfetusmighthaveachromosome
abnormalityresultingincongenitalhypothyroidism.

Theseabnormalultrasoundresults,coupledwiththeabnormalbloodscreeningtestresultspromptedMr.
andMrs.Theeketohavetheamniocentesis.Mr.andMrs.Theekesobstetricianhopestoobtaininformation
aboutthefetalchromosomesanddetermineiftheabnormalultrasoundfindingsaretheresultofa
chromosomeproblem.

Mrs.Theekeishealthyandhasonesisterandfourbrothers:

Thisisthecouplessecondpregnancytogethertheyhaveonehealthy2yearolddaughter.

Her25yearoldsisterwasdiagnosedwithcongenitalhypothyroidismasachild.Shehashealthy2
yearoldnonidenticaltwingirls.

Her21yearoldbrotherishealthy.

Herremaining3brothersarehealthyandstillinEcuador,andtheyreallyoungerthan17yearsold.
(nochildren)
Mrs.Theekesmotheris56yearsold,andshehascongenitalhypothyroidism.

Shehasthreeoldersisterswhoareallintheir60s.Theyallhavechildrenwhoarereportedlyin
goodhealth.Mrs.Theekedoesnthavemuchinformationabouthermothersfamilyhistory.
Mrs.Theekesfatherwaskilledinanaccidentwhenhewas53yearsold.

Mr.Theekeisahealthy25yearoldmanwhohasbeendiagnosedwithcongenitalhypothyroidism.Hehas:

Twooldersisters(ages27and29)whohavebothhavecongenitalhypothyroidism.

Mr.Theekereportsthathisfatherisanonlychild.Hisparents(Mr.Theekesgrandparents)have
congenitalhypothyroidism,andhehadasisterwhowasbornwithcongenitalhypothyroidism.She
diedwhenshewas2yearsold.

Mr.Theekesmotherishealthyandinherlate50s.BothofMr.TheekesparentsliveinEcuador,
andhedoesnothavetheopportunitytoseethemasoftenashewouldlike.

THESCHILLERFAMILY


JillandMitchellSchillerareahealthy,nonconsanguineouscoupleofFrenchCanadianand
EasternEuropeanJewishancestry.Mrs.Schilleris31yearsold,andthisisherthird
pregnancy.TheyplantonametheirchildSusan.

Aroutine20weekultrasoundtoobservethefetalanatomyrevealedmultipleabnormalities.

Mr.andMrs.Schillerelectedtopursuetheamniocentesisproceduretodeterminewhetherthe
observedpatternofanomaliesrepresentsachromosomaldisordergalactosemia.

Mrs.SchillerhasgalactosemiaandisoriginallyfromMontreal,Canada.Shehas:
ahealthy9yearoldsonfromapreviousmarriage.
ahealthy5yearolddaughterwithMr.Schiller
onehealthyolderbrother.Hehasahealthy16yearolddaughteranda13yearoldson
whowasbornwithgalactosemia.
Mrs.Schillersmotheris53yearsoldandhasbeendiagnosedwithgalactosemia.Shes
currentlyavoidingalllactoseproducts.Shehas:
60yearoldsisterwhowasdiagnosedwithgalactosemia.Shehasthreehealthy
childrenintheir30s.
Mrs.Schillersfatheris66yearsold,andishealthy.Hehas:
oneyounger,healthy52yearoldbrotherwhohasonedaughterwhowasadoptedfrom
Koreawhenshewasaninfant.

Mr.Schilleris40yearsold.Hehasahealthy11yearoldsonfromapriormarriage.
Mr.Schillersmotherisinher70sandishealthy.Shehas:
twobrothersintheirlate60sthatarehealthy.
Mr.Schillersfatherisinhismid70s.Heishealthyforhisage.Hehad:
onesisterwhodiedinacaraccidentwhenshewas68yearsold.Shehadthree
childrentwodaughtersandoneson.Theyarecurrentlyaliveandwell.Eachhasone
son.

THELEONARDFAMILY


SeanandKarenLeonardareahealthynonconsanguineousCaucasiancouple.Mr.Leonard
reportsthathisfamilyoriginatesfromIrelandandScotland,whileMrs.Leonardsfamilyisof
completelySwedishdescent.Mrs.Leonardisahealthy42yearoldwomanwhoiscurrently16
weeks(4months)pregnantwithRobert.Thisisthecouplesthirdpregnancytogetherthey
havetwohealthysons,aged5yearsand8years.Mrs.Leonardsobstetricianrecommended
thatshehaveanamniocentesisperformedbecausesheisAMAofadvancedmaternalage.

Mrs.Leonardhasmaplesyrupurineandhas:
one38yearoldsisteringoodhealthwithtwohealthydaughtersages4and3.
Mrs.Leonardsfatheris79yearsold,andheishealthy.Hehas:
onehealthy80yearoldlivingsister,whohastwosons(ages58and53)thatbotharein
goodhealthfortheirage.
Mrs.Leonardsmotheris75yearsoldandingoodhealth.
Shehadonebrotherwhodiedwhenhewas76fromastroke.Thisbrotherhada
daughterwhodiedwhenshewas13yearsoldfromapoordietandmaplesyrupurine
disease.Mrs.Leonardhasnofurtherinformationaboutthisrelative.

Mr.Leonardisa45yearoldmaningoodhealth.Hehasanadopted40yearoldsister,who
hasthreedaughterswhoareallhealthy.
Mr.Leonardsmotheris75yearsold,andishealthy.Sheisanonlychild.
Mr.Leonardsfatheris76yearsold,andhehadtwosisters.
Onesisterwasbornwithmaplesyrupurinedisease.
Hisothersisteris70yearsoldandingoodhealthforherage.Sheneverhadany
children.

THESMITHFAMILY


TinaSmithisa26yearoldwomanofScosh,German,andFrenchancestrywhodeliveredher
thirdchildearlyyesterdaymorning,littleAmy.SheandherhusbandCarl,whois24yearsold
andofGermanandIrishdescenthavedaughterwithMCADdeficiency.

ThephysiciantakingcareofMrs.Smithorderedthatchromosomeanalysisbeperformedonthe
newbornsbloodtoconfirmMCADdeficiency.

Mrs.SmithhasMCADdeficiencyandhasonebrotherandonesister.
Herbrotheris30yearsold,andishealthy.
Herhealthysisteris35yearsold,andshehasahealthy5yearoldson.
Mrs.Smithsmotheris54yearsoldandhasMCADdeficiency.Shehas:
A58yearoldbrotherwhohasMCADdeficiency
Abrotherwhodiedwhenhewas25yearsoldintheVietnamWar.
A66yearoldsisterwhohasMCADdeficiency.Shehas:
healthy30yearolddaughter
Mrs.Smithsfatheris58yearsoldandhealthy.Hehas:
Healthy62yearoldsisterwhoisanuninIreland
A55yearoldsisteringoodhealthwhohasthreehealthysons.

Mr.SmithhasMCADdeficiency:
a28yearoldbrotherwithMCADdeficiency.
Mr.Smithsmotheris58yearsoldandhasMCADdeficiency.Shehas:
63yearoldsisterwhoishealthyandhastwohealthysonstheyhavehealthychildren
aswell.
Mr.Smithsfatheris60yearsoldishealthy.

THEANDERSONFAMILY


RosaandJuanAndersonareahealthynonconsanguineouscouplefromSpain.Mrs.Andersonis30years
oldandiscurrently8monthspregnantwithbabyGary.

Afewweeksago,whenshewas32weekspregnant,Mrs.Theekeoptedtohaveaprenatalscreeningtest
performedonherblood.Ascreeningtestisnotdiagnosticitcanonlysuggestastatisticalpossibilitythata
problemmayexist.

Mrs.Andersonsscreeningresultsindicatedanincreasedchancethatherfetusmighthaveachromosome
abnormalityresultinginPKU.

Theseabnormalultrasoundresults,coupledwiththeabnormalbloodscreeningtestresultspromptedMr.
andMrs.Andersontohavetheamniocentesis.Mr.andMrs.Andersonsobstetricianhopestoobtain
informationaboutthefetalchromosomesanddetermineiftheabnormalultrasoundfindingsaretheresultof
achromosomeproblem.

Mrs.Andersonishealthyandhasonesisterandfourbrothers:

Thisisthecouplessecondpregnancytogethertheyhaveonehealthy2yearolddaughter.

Her25yearoldsisterishealthy.Shehashealthy2yearoldnonidenticaltwingirls.

Her21yearoldbrotherhasPKU.

Herremaining3brothersarehealthyandstillinHolland,andtheyreallyoungerthan17yearsold.
(nochildren)
Mrs.Andersonsmotheris56yearsold,andsheishealthy.

Shehasthreeoldersisterswhoareallintheir60s.Theyallhavechildrenwhoarereportedlyin
goodhealth.Mrs.Andersondoesnthavemuchinformationabouthermothersfamilyhistory.
Mrs.Andersonsfatherwaskilledinanaccidentwhenhewas53yearsold.

Mr.Andersonisahealthy25yearoldmanwhohasbeendiagnosedwithPKU.Hehas:

Twooldersisters(ages27and29)whohavebothhavePKU.

Mr.Andersonreportsthathisfatherisanonlychild.Hisparents(Mr.Andersonsgrandparents)
havePKU,andhehadasisterwhowasbornwithPKU.Shediedwhenshewas2yearsold.

Mr.Andersonsmotherishealthyandinherlate50s.BothofMr.AndersonsparentsliveinHolland,
andhedoesnothavetheopportunitytoseethemasoftenashewouldlike.

THEKOWALSKIFAMILY


MariaKowalskiisa26yearoldwomanofBrazilianancestrywhodeliveredherthirdchildearly
yesterdaymorning,littleDanielle.SheandherhusbandPaul,whois24yearsoldandofPolish
descenthavedaughterwithsicklecellanemia.

ThephysiciantakingcareofMrs.Kowalskiorderedthatchromosomeanalysisbeperformedon
thenewbornsbloodtoconfirmsicklecellanemia.

Mrs.Kowalskiishealthyandhasonebrotherandonesister.
Herbrotheris30yearsold,andishealthy.
Herhealthysisteris35yearsold,andshehasahealthy5yearoldson.
Mrs.Kowalskismotheris54yearsoldandhassicklecellanemia.Shehas:
A58yearoldbrotherwhohassicklecellanemia
Abrotherwhodiedwhenhewas25yearsoldinaviciousbearfight.
A66yearoldsisterwhohassicklecellanemia.Shehas:
healthy30yearolddaughter
Mrs.Kowalskisfatheris58yearsoldandhealthy.Hehas:
Healthy62yearoldsisterwhoisacagefighterinTexas.
A55yearoldsisteringoodhealthwhohasthreehealthysons.

Mr.Kowalskihassicklecellanemia:
a28yearoldbrotherwithsicklecellanemia.
Mr.Kowalskismotheris58yearsoldandhassicklecellanemia.Shehas:
63yearoldsisterwhoishealthyandhastwohealthysonstheyhavehealthychildren
aswell.
Mr.Kowalskisfatheris60yearsoldishealthy