APPLICATION FORM AnEUploidy project

(5 – 10 ml blood sample in a preservative-free EDTA and/or heparin vacutainer or 10 µg of DNA)

 Requesting Physician:         ………………………………………………     Phone number:  …………………….…

Address:                                ………………………………………………     Fax number:  ………………………..…

                                                ………………………………………………     E-mail:  ……..…………………………...

                                                ………………………………………………     Date:  …………………………………....

Patient name:                        ……………………………………………………………………….. .Sex: male / female

Date of Birth:                         ………………………(dd/mm/yyyy)  Karyotype:      ………………………

Karyotype parents:              Mat: ………………………………………………………………………………

                                                            Pat:       ……………………………………………………………………………………

General aspects

Mental retardation                   no / yes:          mild / moderate / severe

Speech development              no / yes

Birth weight                             <P3 / P3-P98 / >P98

Height (present)                      <P3 / P3-P98 / >P98

Hypotonia                                no / yes:          mild / severe

Convulsions                            no / yes

Behavioural problems no / yes:          ADHD / autism / automutilation / aggressive / ………………………

Craniofacial

Head circumference               <P3 / P3-P98 / >P98

Abnormal shape of head        no / yes:          ……………………………………………………… (i.e. trigonocephaly)

Brain

Cerebral anomalies                no / unknown / yes:     holoprosencephaly / corpus callosum agenesis / central upper incisor / Dandy Walker / cerebellum hypoplasia / lissencephaly / ………………………………………………….

Eyes

Position anomalies                  no / yes:          hypotelorism / hypertelorism / up slant / down slant/………………….

Shape anomalies                    no / yes:          blepharophimosis / ptosis / epicanthus/………………………………...

Congenital anomalies             no / yes:          anophthalmia / microphthalmia / coloboma/……………………………

Other anomalies                     no / yes:          cataract / retinal anomalies / …………………………………………...

Nose

Shape anomalies                    no / yes:          ………………………………………………………………………………

Mouth

Schisis                                     no / yes:          lip / jaw / palate……………………………………………………………

Mandibular anomalies no / yes:          micrognatia / retrognatia/…………………………………………………

Dental anomalies                    no / yes:          hypodontia / hyperdontia / caries / …………………………………….

Upper resp. tract anomalies   no / yes:          cat cry / tracheomalacia / choanal atresia/…………………………                          

Ears

Shape anomalies                    no / yes:          dysplastic / large/ small / low-set/……………………………………….

Loss of hearing                       no / yes:          impaired conductance / perception deafness / ………………………..

Heart

Heart anomalies                      no / unknown / yes: ……………………………………………………………………….

Urogenital

Renal anomalies                     no / unknown / yes: hydronephrosis / cystic kidneys / renal hypoplasia / …………..

External genital anomalies      no / yes:          ……………………………………………………………………………..

Gastrointestinal

Omphalocele                          no / yes                                  

Anal atresia                             no / yes

Other GI anomalies                no / yes:          ……………………………………………………………………………..

Skeletal

Arthritis                                    no / yes                                  

Arthrogryposis             no / yes

Vertebral anomalies                no / yes:          ..…………………………………………………………………………….

Abnormal thorax shape          no / yes:          ..…………………………………………………………………………….

Limb defects                           no / yes:          ..…………………………………………………………………………….

Skin

Eczema                                   no / yes                                  

Lymph oedema                       no / yes

Cutis laxa                                no / yes

Hair anomalies                        no / yes:          ..…………………………………………………………………………….

Pigmentation anomalies         no / yes           hypo- / hyperpigmentation / other: …………………………………….

Endocrine/haematological

Endocrine dysfunction            no / yes:          diabetes mellitus / growth hormone deficiency /

Hypothyroidism / hypoparathyroidism / pubertas praecox / …………

Metabolic dysfunction             no / yes:          hypercalciuria / hypocalcaemia / ……………………………………...

Blood anomalies                     no / yes:          anaemia / thrombopenia / a-thalassemia / polycythemia

Immune dysfunction               no / yes:          ...…………………………………………………………………………….

Family history (please specify)

Miscarriages                           no / yes:          ...…………………………………………………………………………….

Mental retardation                   no / yes:          ...…………………………………………………………………………….

Congenital anomalies             no / yes:          ...…………………………………………………………………………….

 Additional comments / milestones / pedigree:

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